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Read articles delving into the universal genetic code: from specific examples of epigenetic modifications, to rare genetic diseases. Genetics Articles Read articles delving into the universal genetic code: from specific examples of epigenetic modifications, to rare genetic diseases. You may also like: Biology Why South Asian genes remember famine An example of epigenetic modification CEDS- a break in cell death Looking at caspase-8’s inability to trigger cell death. Article #11 in a series on Rare diseases. COMING SOON COMING SOON Previous

A CV entails a person's notable accomplishments. We check your CV for free! Our expert advisors offer to review your CV in a time-efficient manner, by providing quality feedback. Curriculum Vitae (CV) Looking to apply for a job after your graduation, internship, or placement? Read below our CV information and advice! What are CVs? A CV entails a person's notable accomplishments - for example, their education history, work experience, certifications, volunteering experience, projects, and more. They are normally made on Microsoft Word and should be one page long , however someone extremely experienced in their field of work may choose to make their CV as two pages. But isn't this a resumé? ... ... No. CVs contain a more comprehensive breakdown of education, work experience etc; a resum é is not as detailed. A resum é also excludes date of birth, address, and contact info, whereas a CV includes this. Why should you write a good CV? There are several reasons as to why you should write a good CV, with just a few listed below: Professionalism A well organised, polished CV reflects your attention to detail and makes you more likely to be considered by employers for the advertised job. First impression and employability Employers spend less than 9 seconds looking at a CV! Hence, a well-designed CV is important as it will make you stand out and increase chances of securing an interview. Career progression A CV is not only for getting a job. It shows how you have generally developed as an employee, from what new skills you have gained to the responsibilities you have picked up. Networking Having a strong CV will allow you to share your background in a quick and efficient matter at, for example, career fairs or industry events. How do I know if my CV is to the right standard? Read below to find out more. We can check your CV for free! 1. Style We will make sure your writing is coherent and flows in the correct way, such as in chronological order. We will also recommend fonts, font sizes, appropriate headings that employers prefer and more, as layout is incredibly important to consider. 2. Spelling, punctuation and grammar It is easy to make small errors that can be easily overlooked! However, we will proofread your work to make sure your sentences make sense whilst being straight to the point. 3. Sections to include More than one would think, some may include sections that are of no relevance to the employer or put lack of detail in the ones that matter most. We will help make sure you don't fall into this trap. 4. Helping you make a start It is completely normal to feel like you don't know where to start from, too! Our advisors can ask you personalised questions regarding your experience, education, and so on to give you a 'template' to work on. This can then be reviewed and personalised feedback will be given until you are satisfied. 5. Other neat tricks... There are some features of a CV that individuals may not focus on but employers actually look for (hint: super- and extracurricular). Find out more from us if you're interested! Browse some career roles and insights in jobs related to: statistics , nuclear medicine , clinical computer scientist Example universities where some of our advisors attend/have graduated from: Queen Mary University of London, Imperial College London, University of Liverpool and so on. Some of these students have secured placements, internships, and jobs with companies such as GSK and STATIC St. Andrews ! Just like personal statements , our expert advisors offer to review your CV in a time-efficient manner, by providing feedback on the following: Fill the form out below and we will contact you* * Alternatively, you can email us at scientianewsorg@gmail.com . Please keep the subject as 'CVs'. Email Subject Your message Send Thanks for submitting!

Unlocking the mystery of spinal disorders and paving the way for targeted therapies Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Unveiling the cancer magnet: vertebral stem cells and spinal tumour metastasis Last updated: 29/05/25, 10:46 Published: 24/04/25, 07:00 Unlocking the mystery of spinal disorders and paving the way for targeted therapies Introduction Researchers at Weill Cornell Medicine have discovered that the vertebral bones in the spine contain a unique type of stem cell that secretes a protein-promoting tumour metastasis. This protein, called MFGE8, plays a significant role in attracting tumours to the spine, making it more susceptible to metastasis when compared to other bones in the body. A new line of research on spinal disorders This groundbreaking study , published in the journal Nature, sheds light on the mechanisms behind the preference for solid tumours to spread to the spine. The findings open up a new line of research on spinal disorders, potentially leading to a better understanding and treatment of bone diseases involving the spine. Identifying vertebral stem cells The researchers began their study by isolating skeletal stem cells, which are responsible for bone and cartilage formation, from various bones in lab mice. Through gene activity analysis, they identified a distinct set of markers for vertebral stem cells. Further experiments in mice and lab-dish cell culture systems confirmed the functional roles of these stem cells in forming spinal bone. Unravelling the mystery of spinal tropism Previous theories attributed the spine's susceptibility to metastasis to patterns of blood flow. However, the study's findings challenged this long-standing belief. Animal models reproduced the phenomenon of spinal tropism, but the researchers discovered that blood flow was not the sole explanation. Instead, they found evidence pointing towards vertebral stem cells as the possible culprits. The role of MFGE8 The researchers discovered that spinal tropism is largely a result of the protein MFGE8, which vertebral stem cells secrete in greater quantities than other bone stem cells. Removing vertebral stem cells eliminated the difference in metastasis rates between spine bones and other long bones. Implications for cancer patients These findings have significant implications for cancer patients, particularly those at risk of spinal metastasis. The researchers are now exploring methods to block the activity of MFGE8, aiming to reduce the risk of tumour spread to the spine. By understanding the distinctive properties of vertebral stem cells, researchers hope to develop targeted treatments for spinal disorders. A new frontier in orthopaedics According to study senior author Matthew Greenblatt, the identification of these unique stem cells opens up a new subdiscipline in orthopaedics called spinal orthopaedics. Many conditions in this clinical category may be attributed to the properties of vertebral stem cells. Further research in spinal orthopaedics is needed to understand how these distinct properties of vertebral stem cells contribute to spinal disorders. The discovery of MFGE8, a protein secreted in higher amounts by vertebral stem cells, has shed light on the mechanism behind the preferential spread of tumours to the spine. By investigating methods to block MFGE8, researchers hope to reduce the risk of spinal metastasis in cancer patients. Additionally, the study findings highlight the importance of understanding the role of vertebral stem cells in bone diseases that primarily affect the spine. This new line of research may provide insights into the development of novel treatments for spinal disorders. Conclusion In conclusion, the study by researchers at Weill Cornell Medicine has shown that vertebral bones, which make up the spine, contain a particular type of stem cell that secretes a protein known as MFGE8. This protein plays a significant role in promoting tumour metastases, explaining why solid tumours often spread to the spine. The findings have opened up new avenues of research in understanding spinal disorders and may lead to the development of strategies for reducing the risk of spinal metastasis in cancer patients. Overall, this study highlights the importance of vertebral stem cells in contributing to spinal disorders and emphasises the need for further investigation in this field. Written by Sara Maria Majernikova Related articles: Cancer metastasis / Brain metastasis / Stem cells REFERENCE Sun, J., Hu, L., Bok, S. et al. A vertebral skeletal stem cell lineage driving metastasis. Nature 621, 602–609 (2023). https://doi.org/10.1038/s41586-023-06519-1 Project Gallery

Sharpen your knowledge on this subject with articles dissecting the branch of behavioural economics (the role of honesty, endowment effect, loss of aversion, effect of time), among others. Economics Articles Sharpen your knowledge on this subject with articles dissecting the branch of behavioural economics (the role of honesty, endowment effect, loss of aversion, effect of time), among others. You may also like: Maths The role of honesty Article #1 in a series on behavioural economics The endowment effect Article #2 in a series on behavioural economics Loss aversion Article #3 in a series on behavioural economics COMING SOON

Pisaster ochraceus (also known as ‘ochre stars’) is a keystone species and common starfish found in the Pacific Ocean and are very interesting species to research on. They are found mainly in Alaska and Baja California. Their size range from 15 to 36cm in diameter come in different ranges of colours eg: red, yellow, orange and purple. Go back Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Designing an experiment on sea stars Last updated: 17/11/24 Published: 25/03/23 Title: How do light and dark rocky surfaces affect the relative fitness of the orange and purple ochre stars? Pisaster ochraceus (also known as ‘ochre stars’) is a keystone species and common starfish found in the Pacific Ocean and are very interesting species to research on. They are found mainly in Alaska and Baja California. Their size range from 15 to 36cm in diameter come in different ranges of colours eg: red, yellow, orange and purple. They are mainly found near rocky shores and found under rocks and in crevices in the low and intertidal zones and they often cluster together. They are simple organisms, they do not have brain or ganglia and around its mouth there is a nerve ring which connects with 5 radial nerves. The population of Pisaster ochraceus that are orange are 6- 28%, whilst majority are purple and researchers have seen that mainly genetic traits cause these species to have different colours whilst they develop. There have also been experiments that examined how colour changes across the geographic range. Figure 1: Image of purple and orange ochre stars The aim of the experiment would be to see how either light or dark rocky surfaces affect the relative fitness of the orange and purple ochre stars, meaning their offspring. The relative fitness shows how much fitness there is in a genotype compared to the maximum fitness. Before starting this experiment, a risk assessment has to be done to make sure it is safe and increases hazard awareness when the experiment is being done. The likelihood, severity and risk has to be looked into during the assessment and how to reduce the risk. One example is, doing the experiment by the shores can be risky due to wind waves and tides and so appropriate footwear has to be worn and the weather should be looked into before going to do this experiment. There are going to be control variables such as: season, quadrat area, number of samples calculated and same equipment being used throughout the whole day so validity would be affected. The uncontrolled variables would be: temperature, pH of seawater and predators that consume Pisaster ochraceus . In order to see how the Pisaster ochraceus are affected, 10 - 15 sites should be chosen and a quadrat can be used (10 metres by 10 metres) on each site and running parallel by using a tape measure on darker rocky surfaces and then after on lighter rocky surfaces. This will be useful as you can see the distribution. Place 15 quadrats randomly over each area in every site to work out the abundance. Within each quadrat, orange and purple Pisaster ochraceus are counted separately to illustrate the set of results with the different colours and the rocky surfaces on a table of results. After collecting the results, this should be shown on a set of tables and then placed on a stratified bar graph showing all the sites, the colour of the starfish (on the x- axis) and results of relative fitness(on the y-axis) showing a good visualisation of the experiment. A paired t-test should be done as we want to see the difference between two variables which are the light and dark rocky surfaces for the same sample which is the colour of the starfish through their means. It should then be concluded by seeing which morph has a higher relative fitness and conclude to see if there is an effect. If the p-value is lesser or equal to the significance value, then the hypothesis should be rejected if the p-value is higher than the significance value the hypothesis should be accepted. Figure 2: Purple and orange ochre stars on rocky surfaces Carrying out an experiment in a natural environment is an advantage as this can be reflected on real life therefore having higher ecological validity. However, doing this experiment can have some disadvantages, even though this is cost-effective and done in a natural environment, we do not know how reliable these results will be because the collection of results can have some inaccuracy. Also, it also has to be understood that many other biotic and abiotic factors can affect this experiment. As it is done in the natural environment there will be issues with Pisaster ochraceus being predated by sea otters or even seagulls which can have an effect on results and also making it less generalisable. Air temperature and water temperature can also have an effect on these species as well and it cannot be controlled which can create issues on results. Also, by using a quadrat, it can be prone to human errors (miscounting or overcounting) and having randomly spaced quadrats, can miss out individual species therefore showing under-representative estimates and results in the populations of the Pisaster ochraceus . More repeats would have to be done throughout the years to collect more accurate results and also be tested by other variables such as temperature, wave exposure and even pH of seawater to see if this also affects relative fitness of Pisaster ochraceus with different colouration. It is important to think about the ethical considerations as it is a natural area and these species organisms live there and it should not be damaged before, during and after the experiment. The creatures must be respected as well as the environment they live in. With many equipment being used, it is vital not to interfere with the organisms, create litter or disturb the habitat as it will be unethical. In conclusion, this experiment is effective as it is done in a natural environment at different sites but it will be time consuming due to changes in weather and working out the abundance over all the sites for a long period of time. By doing the paired t-test, a difference in the two means can be seen and create smaller effects on error from the samples. Written by Jeevana Thavarajah Related articles: An experiment on castor oil / on pendulums REFERENCES The Biological Bulletin. 2022. Color Polymorphism and Genetic Structure in the Sea Star Pisaster ochraceus | The Biological Bulletin: Vol 211, No 3. [online] Available at: [Accessed 18 January 2022]. Animal Diversity Web. 2022. Pisaster ochraceus. [online] Available at: [Accessed 18 January 2022]. Sanctuarysimon.org. 2022. SIMoN :: Species Database. [online] Available at: [Accessed 18 January 2022]. Rgs.org. 2022. Royal Geographical Society - Fieldwork in schools. [online] Available at: [Accessed 18 January 2022].

The tireless challenge Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Childhood stunting in developing countries 10/07/25, 10:16 Last updated: Published: 09/03/24, 17:53 The tireless challenge Introduction Certain countries worldwide face numerous challenges that decrease their populations' quality of life; some include hunger, poverty and rising harmful emissions, which are complicated to resolve. This is because international cooperation is needed to tackle them effectively. Furthermore, they are associated with stunting, defined as diminished growth and development that children experience because of undernutrition or lack of sufficient nutrients, frequent infections and deficient psychosocial interventions, according to the World Health Organisation. With this definition in mind, this article will delve into stunting and malnutrition before discussing how stunting is linked to infectious diseases and harmful emissions and steps forward to reduce this condition in developing countries, as shown in Figure 2 . Undernutrition and stunting Stunting is one of the consequences of undernutrition, possibly due to reduced synthesis of insulin-like growth factor 1 (IGF-1) in the body, leading to amplified growth hormone (6). As for the determinants of undernutrition, a paper from Brazil found socioeconomic characteristics like family income and biological ones such as age notably linked to undernutrition. Another result of undernutrition is being underweight. A systematic review from Ethiopia focusing on nutrition in 5-year-old children amalgamated 18 studies. It estimated that stunting and being underweight had 42% and 33% prevalence, respectively; it could be inferred that undernutrition is linked to stunting. Additionally, a paper that used data from 32 Sub-Saharan African countries discovered that providing maternal health insurance (MHI) reduces stunting and being underweight, which is more apparent in girls than boys. In turn, MHI is necessary for supporting children’s health. Non-nutritional factors and stunting As for infections and stunting, an article highlighted that children with stunted growth are vulnerable to diarrhoeal and respiratory diseases besides malaria. Moreover, conditions worsen undernutrition, causing a vicious cycle between them, manifesting into growth defects. Furthermore, a systematic review of 80 studies found a connection between helminth infections and stunting, but insufficient evidence supported this hypothesis. With this said, there may need to be additional studies to investigate this further. With undernutrition’s impact on the immune system, newborns and small children with extreme protein deficiency have smaller thymuses and underdeveloped peripheral lymphoid organs, leading to immunological cell defects such as reduced T-cell count. Before concluding this article, exposure to harmful emissions is a recurring problem that affects everyone, including children. Different observational studies proposed that inhaling nitrogen oxide and particulate matter in utero could modify DNA methylation, possibly influencing foetal growth. Conclusion Reflecting on all the evidence in this article, stunting in developing countries is heading in a direction where it could become problematic. However, according to findings from UNICEF, stunting has gradually reduced between 2000 and 2020 in children under 5 years old. Nevertheless, awareness of stunting in developing countries is critical because it is the first step to tackling this health issue. Written by Sam Jarada Related articles: Childhood obesity / Depression in children / Postpartum depression in adolescent mothers REFERENCES Jamali D, Leigh J, Samara G, Barkemeyer R. Grand challenges in developing countries: Context, relationships, and logics. Business Ethics, the Environment & Responsibility. 2021 Sep;30(S1):1–4. Maleta K. Undernutrition. Malawi medical journal: the journal of Medical Association of Malawi. 2006 Dec;18(4):189–205. World Health Organization. Stunting in a nutshell. www.who.int . 2015 Nov;19. Beal T, Tumilowicz A, Sutrisna A, Izwardy D, Neufeld LM. A review of child stunting determinants in Indonesia. Maternal & Child Nutrition. 2018 May 17;14(4):e12617. Vaivada T, Akseer N, Akseer S, Somaskandan A, Stefopulos M, Bhutta ZA. Stunting in childhood: an overview of global burden, trends, determinants, and drivers of decline. The American Journal of Clinical Nutrition. 2020 Aug 29;112. Soliman A, De Sanctis V, Alaaraj N, Ahmed S, Alyafei F, Hamed N, et al. Early and Long-term Consequences of Nutritional Stunting: From Childhood to Adulthood. Acta Bio Medica : Atenei Parmensis. 2021;92(1) Correia LL, Silva AC e, Campos JS, Andrade FM de O, Machado MMT, Lindsay AC, et al. Prevalence and determinants of child undernutrition and stunting in semiarid region of Brazil. Revista de Saúde Pública. 2014 Feb 1;48:19–28. Abdulahi A, Shab-Bidar S, Rezaei S, Djafarian K. Nutritional status of under five children in Ethiopia: a systematic review and meta-analysis. Ethiopian Journal of Health Sciences. 2017 Mar 15;27(2):175. Kofinti RE, Koomson I, Paintsil JA, Ameyaw EK. Reducing children’s malnutrition by increasing mothers’ health insurance coverage: A focus on stunting and underweight across 32 sub-Saharan African countries. Economic Modelling. 2022 Dec 1;117:106049. Vonaesch P, Tondeur L, Breurec S, Bata P, Nguyen LBL, Frank T, et al. Factors associated with stunting in healthy children aged 5 years and less living in Bangui (RCA). Wieringa F, editor. PLOS ONE. 2017 Aug 10;12(8):e0182363. Raj E, Calvo-Urbano B, Heffernan C, Halder J, Webster JP. Systematic review to evaluate a potential association between helminth infection and physical stunting in children. Parasites & Vectors. 2022 Apr 20;15(1). Schaible UE, Kaufmann SHE. Malnutrition and Infection: Complex Mechanisms and Global Impacts. PLoS Medicine. 2007 May 1;4(5):e115. Sinharoy SS, Clasen T, Martorell R. Air pollution and stunting: a missing link? The Lancet Global Health. 2020 Apr;8(4):e472–5. UNICEF. Malnutrition in Children. UNICEF DATA. 2023. Project Gallery

Jennifer Doudna and Emmanuelle Charpentier were jointly awarded the Nobel Prize in Chemistry in the year 2020, for their major contributions in reducing the number of components in the CRISPR-Cas9 system. An outline of their discovery CRISPR-Cas9 (clustered regularly interspaced short palindromic repeats) can be used, by removing, adding, or altering particular DNA sequences and may edit specific parts of the genome. Go Back Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Who were the winners of the Nobel Prize in Chemistry in 2020? Last updated: 07/11/24 Published: 02/02/23 Jennifer Doudna and Emmanuelle Charpentier were jointly awarded the Nobel Prize in Chemistry in the year 2020, for their major contributions in reducing the number of components in the CRISPR-Cas9 system. An outline of their discovery Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR-Cas9) can be used, by removing, adding, or altering particular DNA sequences and may edit specific parts of the genome. A four-part mechanism called the Cas9 endonuclease consists of two small molecules. By combining these two RNA molecules into a "single-guide RNA," by Jennifer Doudna and Emmanuelle Charpentier, the Cas9 endonuclease was redesigned into a more manageable two-component system that could locate and cut the DNA target defined by the guide RNA- CRISPR/Cas9 ‘genetic scissors’. It can silence or activate genes as well as add or remove others. The Nobel Prize in Chemistry was awarded in 2020 in recognition of this contribution. Some advantages of this technology: quick easy adaptable innovative, unique Disadvantages: distribution challenges extremely conservative ethical issues some off-target effects some negative outcomes Significance of this discovery This discovery is important in preventing disease and is such a revolutionary tool. It does not just help humans but also animals, plants and even bacteria. CRISPR has already been applied to various disorders, such as cancer and infectious diseases. By making it possible to make changes to the target cells' genomes, which were previously challenging to do, the procedure offers a new perspective on biological treatment and demonstrates how important this tool is. But since this technology is still recent, scientists must develop straightforward processes and techniques to monitor and test its progress, performance, and outcomes. Jennifer Doudna Hailing from Washington DC., USA, Jennifer Doudna was born in 1964. As a professor of biochemistry, biophysics, and structural biology, Doudna’s main research focus is on RNA, and its variety of structures and functions. It was her research lab’s work that led to the discovery of CRISPR-Cas9 as an extraordinarily powerful tool to cut and edit the human genome to treat disease. This remarkable discovery was a decade ago in 2012, when Doudna and others were able to copy a bacterial system to create molecular scissors, in order to edit the genetic code. In October 2020, at the time of her being awarded the Nobel Prize in Chemistry, Doudna was affiliated to the University of Berkeley, in California. Emmanuelle Charpentier Coming from a French background, Emmanuelle Charpentier is a professor and researcher in microbiology, genetics, and biochemistry. Born in 1968, researcher Charpentier has made tremendous progress in her respective field. From being the director at the Berlin Max Planck Institute for Infection Biology in 2015, to founding her own independent research institute- the Max Planck Unit for the Science of Pathogens in the year 2018, and of course being jointly awarded the Nobel Prize in Chemistry in 2020; it is true that Charpentier has added new, valuable research in her work and has come a long way in her career. Why the CRISPR/ Cas9 system fascinates us We find CRISPR fascinating because as biological science students, we know this tool is vital for genetics and can help cure present incurable diseases such as sickle cell disease as well as cancer, showing what a revolutionary tool this is. It does not just help humans but also animals, plants and even bacteria showing how broad biology is and different fields can be linked to one another. Researchers are constantly coming up with new ways to use CRISPR-Cas9 gene editing technology to solve problems in the real world, such as epigenome editing, new cell and gene therapies, infectious disease research, and the conservation of endangered species. The advantages of this technology are that it is quick, easy and adaptable, but its disadvantages include distribution challenges, extremely conservative ethical issues, some off-target effects, and some negative outcomes. By making it possible to make changes to the target cells' genomes, which were previously challenging to do, the procedure offers a new perspective on biological treatment and demonstrates how important this tool is. Written by Jeevana Thavarajah, and Manisha Halkhoree Scientia News founder and managing director Related articles: Female Nobel prize winners in Chemistry and in Physics

And a hope for a more sustainable future Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Green Chemistry 05/02/25, 16:33 Last updated: Published: 29/06/23, 10:33 And a hope for a more sustainable future Green Chemistry is a branch of chemistry that takes into consideration the design of synthetic reactions to minimise the generation of hazardous by-products, their impact on humans and the environment. Often reactions are designed to take place at low temperatures with short reaction times and increased yields. This is preferred as fewer materials are used and it is more energy efficient. When designing routes it is important to consider ‘How green is the process?’ in this way we are shifting focus to a more sustainable future where we are emitting fewer pollutants, using renewable feedstocks and energy sources with minimal waste. In 1998 Paul Anastas and John Warner devised the twelve principles of Green Chemistry. They serve as a framework for scientists to design innovative scientific solutions to existing and new synthetic routes. Scientists are looking into environmentally friendly reaction schemes which can simplify production as well as being able to use greener resources. It is impossible to fulfil all twelve principles at the same time but making attempts to apply as many principles as possible when designing a protocol is just as good. The twelve principles are: Prevention: waste should be prevented rather than treating waste after it has been created. Atom Economy: designing processes where you are maximising the incorporation of all materials so all reagents are in the final product. Less Hazardous Chemical Synthesis : synthetic methods should be designed to be safe and the hazards of all the substances should be reviewed. Designing Safer Chemicals: designed to eliminate chemicals which are carcinogenic, neurotoxic, etc. essentially safe to the Earth. Safer Solvents and Auxiliaries: using auxiliary substances and minimising usage of solvents to reduce waste created. Design for Energy Efficiency: designing synthetic methods where reactions can be conducted at ambient temperature and pressure. Use of Renewable Feedstock: raw materials used for reactions should be renewable rather than depleting. Reduce Derivatives: reducing the steps required in a reaction by using catalysts/ enzymes and adding protecting or deprotecting groups or temporary modification of functionality. Extra steps require more reagents and generate a lot of waste. Catalysis: catalysts lower energy consumption and increase reaction rates. They allow for decreased use of harmful and toxic chemicals. Design for Degradation: chemical products should be designed so that they can break down and have no harmful effects on the environment. Real-time analysis for Pollution Prevention: analytical techniques required to allow monitoring of the formation of hazardous substances. Inherently Safer Chemistry for Accident Prevention: involves using safer chemical alternatives to prevent the occurrence of an accident e.g. fires; explosions. Some examples of areas where Green Chemistry is implemented: Computer Chips: the use of supercritical carbon dioxide as a step for the preparation of a chip. This has reduced the quantities of chemicals, water and energy required to produce chips. Medicine: developing more efficient ways of synthesising pharmaceuticals e.g. chemotherapy drug Taxol. Green Chemistry is widely being implemented in academic labs as a way to reduce the environmental impact and high costs. As of today and the future mainstream chemical industries have not fully embraced green chemistry and engineering with over 98% of organic chemicals being derived from petroleum. This branch in Chemistry is still fairly new and will likely be one of the most important fields in the future. Written by Khushleen Kaur Related article: The challenges in modern day chemistry Project Gallery

Exploring the genetic roots of a neurological tragedy Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Breaking down Tay-Sachs 15/05/25, 10:43 Last updated: Published: 20/04/24, 11:29 Exploring the genetic roots of a neurological tragedy This is article no. 9 in a series on rare diseases. Next article: Ehlers-Danlos Syndrome . Previous article: Pseudo-Angelman Syndrome . Tay-Sachs disease is a heritable metabolic condition that affects the neurons in the brain. The disease is more common in infants and young children as well as people of Ashkenazi Jewish descent, although it can occur in any ethnicity. Symptoms of the disease most commonly manifest themselves in children around six months of age. However, it is possible to develop symptoms from five years old to the teenage years. There are three different forms of the disease, each appearing at different stages of life: infantile, juvenile, and adult. The adult form is much rarer and non-fatal but can still cause neuron dysfunction and psychosis. Early symptoms of the disease include mobility issues such as difficulty crawling, and as the disease progresses, the child may suffer from seizures, vision, and hearing loss. In the classic infantile form, the disease is fatal within the first few years of life or by three to five years old. In infants, infection and respiratory complications, such as pneumonia, are the most common cause of death. Being categorised as an autosomal recessive disease means that in order to display the phenotype, two copies of the mutated HEXA gene must be present in an individual. This HEXA gene is located on chromosome 15 and is responsible for producing enzymes that affect the nerve cells. The carrier frequency of Tay-Sachs is highly dependent on ethnic backgrounds, with carrier frequency being 1 in 30 for those of Ashkenazi Jewish descent and 1 in 300 for others. The chance of developing the disease early or late is predicated on the specific type of HEXA mutation that is inherited within the family. Meaning, if one child in a family possesses the infantile form, all other members of the family will also possess the infantile form (if they express the phenotype). When both parents are carriers of the Tay-Sachs gene mutation, there is a 25% chance with each pregnancy that the child will inherit two mutated copies of the HEXA gene and thus be affected by the disease. Also, there is a 50% chance the child will be a carrier like the parents and a 25% chance the child will inherit two normal copies of the gene and be unaffected. Furthermore, this particular type of gene mutation results in the disease being commonly labelled as a hexosaminidase A deficiency. The HEXA gene’s significance in the disease is further highlighted due to its ability to code for specific alpha subunits in the enzyme β-hexosaminidase A. This enzyme is involved in breaking down molecules that can be recycled in a cell through the use of lysosomes. This key cellular function helps a cell undergo apoptosis (programmed cell death) or help evade bacteria that can damage a cell. However, in individuals with this HEXA gene mutation, less of the enzyme β-hexosaminidase A is produced, which results in less degradation of GM2 ganglioside. GM2 ganglioside is a lipid involved in a host of processes such as membrane organisation, neuronal differentiation, and signal transduction. In addition, due to its lack of degradation, it accumulates inside the body. The rate at which the lipid accumulates inside the cell ultimately determines the form of Tay-Sachs an individual will possess. It is worth noting that this GM2 ganglioside pathology also includes other diseases, such as Sandhoff disease and the AB variant, which have similar disease prognoses. Furthermore, the disease specifically targets the brain as gangliosides are the main lipids that compose neuronal plasma membranes. Their expression is specific to brain regions, impacting key neurodevelopmental processes like neural tube formation and synaptogenesis. Furthermore, ganglioside synthesis is a highly regulated process facilitated by glycosyltransferases during transcription and post-transcription. They also modulate ion channels and receptor signalling, which are crucial for neurotransmission, memory, and learning. The exact mechanism of how this ganglioside accumulation due to HEXA malfunction leads to neuronal death remains unclear. Figure 1 illustrates the dysfunction of the alpha subunit in HEXA as it cannot break down GM2 gangliosides. This results in an accumulation of GM2 within the liposome, contrasting with its concentration in the external environment. This accumulation of GM2 causes lysosomal dysfunction and eventually cell damage, which leads to the symptoms commonly associated with Tay-Sachs. Mouse models have been created to understand this GM2 pathway in greater detail to develop treatments. However, this is quite limited as mice do not have the same pathway of breaking down GM2 as humans. Also, since the disease may be prevalent before birth, it is hard to establish the damage done to a baby inside the womb, making reversing this disease in infants very challenging. However, the later onset types of Tay-Sachs disease might respond to treatment. Implementing ganglioside synthesis inhibitors in combination with existing DNA and enzymatic screening programs holds promise for eventually managing and controlling this condition. Parents can undergo genetic screening to assess their risk of carrying the Tay-Sachs gene, which is done by doing a simple blood test that examines the DNA for mutations in the HEXA gene. Genetic screening is particularly important for couples who have a family history of Tay-Sachs disease or who belong to ethnic groups with a higher prevalence of the condition. Early detection through genetic screening allows couples to make informed reproductive decisions, such as pursuing in vitro fertilisation with preimplantation genetic testing or opting for prenatal testing during pregnancy to determine if the foetus has inherited the mutated gene. Utilising the acronym SHADES as a mnemonic to recognise potential signs of Tay-Sachs disease in their child can help parents get a prompt medical evaluation if any symptoms arise. SHADES: S tartle response H earing loss A ffecting vision D evelopmental delay E pileptic seizures S wallowing difficulties Written by Imron Shah REFERENCES Center, N. (2015). Tay-Sachs disease. Nih.gov . Available at: https://www.ncbi.nlm.nih.gov/books/NBK22250/ . Leal, A.F., Benincore-Flórez, E., Solano-Galarza, D., Garzón Jaramillo, R.G., Echeverri-Peña, O.Y., Suarez, D.A., Alméciga-Díaz, C.J. and Espejo-Mojica, A.J. (2020). GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies. International Journal of Molecular Sciences, 21(17), p.6213. doi: https://doi.org/10.3390/ijms21176213 . Ramani, P.K. and Parayil Sankaran, B. (2022). Tay-Sachs Disease. PubMed. Available at: https://www.ncbi.nlm.nih.gov/books/NBK564432/ . Project Gallery

Unraveling the mysteries of protein-DNA interactions Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Zinc fingers in action 14/07/25, 15:21 Last updated: Published: 07/01/24, 14:22 Unraveling the mysteries of protein-DNA interactions Zinc-finger proteins are one of the most prevalent proteins used in DNA-binding motifs in biological processes. They are common as eukaryotic transcriptional factors. As they are structurally diverse, they interact in cellular processes like RNA packaging, DNA recognition, and transcriptional activation. Cys2His2 zinc- finger proteins are significant in cellular processes because of their short helical structure. The motif forms from a few amino acid sequences that contain cysteine and histidine residues that coordinate to a zinc ion. The zinc ions are crucial in stabilising the protein during folding. They also hold the α-helix and β-sheetstructures in place. The protein’s stability comes from the weak hydrophobic core and zinc coordination created by chelating. The zinc-finger/DNA complex is formed from the fingers interacting with up to four bases. The zinc finger DNA complex was first discovered from the transcription factor TFIIIA. The transcription factor had a ninefold pattern containing hydrophobic residues, histidine, and cysteine. The zinc finger motif was then concluded to consist of thirty amino acids and have a DNA binding domain with a zinc ion. This was confirmed by an extended x-ray absorption fine structure analysis. It was concluded that the contacts between the DNA strand and α helix occur due to hydrogen bonding and Van der Waals interactions. From these studies, the structures of zinc finger domains play vital roles in many processes other than DNA binding. Their tertiary structure allows the proteins to act as DNA-binding motifs. The alpha helix functions as the protein recognition component by inserting the protein into the main groove of DNA. Immobilizing zinc-finger proteins on a polymer chip can be used as an example to identify infections in the human body. This section provides a summary of the many kinds of DNA recognition and the generic protein-folding principles. Firstly, a specific binding site probe is needed to identify the DNA sequence region. This allows the identification of specific base pairs in the sequence. The hydrogen bonds between the amino acids in the zinc-finger proteins and DNA bases allow the zinc- finger proteins to bind to non-specific backbone phosphates. The non-specific backbone phosphates are formed from the interactions in the major and minor grooves of the DNA. The zinc-finger DNA interactions contribute substantially to hydrogen bonding and overall binding energy. To conclude, zinc fingers are very common structural motifs that are used as model systems to investigate how these proteins can recognise DNA sequences. This research has been involved in developing important therapeutic tools. Their unique structure allows them to be heavily involved in DNA binding, most commonly the Cys2His2 fingers. These binding interactions can be further explored to understand how certain target genes are bound to or how inhibitors can show the pharmacological properties of the zinc finger proteins. Written by Anam Ahmed Related articles: p53 protein / Anti-freeze proteins Project Gallery