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Business Standard
21-07-2025
- Health
- Business Standard
Key vitamin D gene may unlock new cancer, autoimmune treatments
A key gene that helps the body absorb and process vitamin D has been found to play a much bigger role than previously thought. Researchers using the gene-editing tool CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) have identified the gene SDR42E1 as a critical component not only in vitamin D metabolism but also in the development and treatment of certain cancers and autoimmune diseases. The findings, published in Frontiers in Endocrinology, have opened a promising chapter in the field of personalised medicine. By disabling or enhancing this gene, scientists may be able to improve vitamin D function and also fight conditions like colon cancer, the finding mentions. These findings come from a joint study by three universities in Jordan, Qatar and Lebanon. Why is vitamin D so important? Vitamin D is not just an essential nutrient, but also the precursor of the hormone calcitriol, which regulates the uptake of phosphate and calcium necessary for bones by the intestines, as well as cell growth and the proper function of muscles, nerve cells, and the immune system. The scientists have identified how a particular gene, called SDR42E1, is crucial for taking up vitamin D from the gut and further metabolising it. This means that issues with this gene could not only impact vitamin D absorption but also raise the risk of chronic conditions linked to vitamin D deficiency. What makes SDR42E1 so special? Researchers used a gene-editing tool, CRISPR, to transform the active form of the gene SDR42E1 into inactive form, in colon cancer cells taken from a patient. After turning the gene off, the number of live cancer cells dropped by 53 per cent. The change also affected over 4,600 other genes in the cells, many of which are linked to cancer growth and how cells process fat-like substances. The results suggest that this gene, SDR42E1, can work in two helpful ways: 1. Suppressing SDR42E1 to kill cancer cells: Turning off the SDR42E1 gene might be beneficial in cancer treatment, as it may help induce the death of cancerous cells. 2. Enhancing SDR42E1 to boost calcitriol production: Increasing the activity of this gene in certain body tissues could be advantageous for health, as it aids in producing calcitriol — a biologically active form of vitamin D that supports various bodily functions. 'Because SDR42E1 is involved in vitamin D metabolism, we could also target it in any of the many diseases where vitamin D plays a regulatory role,' said said Dr Georges Nemer, professor and associate dean for research at the University of College of Health and Life Sciences at Hamad Bin Khalifa University in Qatar, and the study's corresponding author. 'For example, nutrition studies have indicated that the hormone can lower the risk of cancer, kidney disease, and autoimmune and metabolic disorders,' he said. Dr Shishir N Shetty, senior consultant-surgical oncology, Fortis Hiranandani Hospital, expressed caution: 'SDR42E1 is linked to lipid metabolism. Disrupting it may affect systemic pathways including bone marrow function, immune cell regulation, or endocrine signalling. Any intervention must ensure that silencing this gene doesn't induce long-term metabolic, immunological, or skeletal side effects in treating one cancer. We should be careful not to open new pathways for other types of cancers.' Could this lead to new cancer therapies? The early results are encouraging. Although the current research focuses on colon cancer, scientists are hopeful that similar approaches could work for other cancers or immune-related diseases. While the gene knockout seems to impair colon cancer cell survival, it's still unclear if the SDR42E1 gene is non-essential in healthy tissue. 'Editing genes in live patients, especially in solid tumours, requires not just accuracy but safety at every level. Additionally, it is not one gene which may be the problem. Different genes might be overexpressed in other cancers. Only if SDR42E1 overexpression or dependency is seen in other cancers could this strategy be expanded. However, tumour specificity is key. CRISPR is a potential game-changer, but with gene targets, the devil is always in the details, and in this case, it is the biological and clinical details,' said Dr Shetty. How soon could this lead to colon cancer treatments? While much of the work is still in early stages, the discovery of SDR42E1's role has the potential to reshape how we think about vitamin D and its link to disease. With more research and clinical trials, scientists hope to turn this genetic insight into life-saving therapies for millions around the world. Dr Shetty explained, 'This is promising basic science, but we're very early in the discovery phase. If follow-up studies in animals and patient-derived models are favourable, we may see targeted therapies emerge in five to 10 years. And it is very complex and not easy to translate gene knockouts into safe drugs.'
Hans India
19-07-2025
- Health
- Hans India
Gene essential for vitamin D absorption may boost cancer treatment
Scientists have identified a key gene essential for vitamin D absorption, which may also boost treatments for cancer and autoimmune diseases. The gene, called SDR42E1, is crucial for taking up vitamin D from the gut and further metabolising it -- a discovery with many possible applications in precision medicine, including cancer therapy. 'Here we show that blocking or inhibiting SDR42E1 may selectively stop the growth of cancer cells,' said Dr Georges Nemer, Professor at the University of College of Health and Life Sciences at Hamad Bin Khalifa University in Qatar. Previous research showed that a specific mutation in the SDR42E1 gene on chromosome 16 is associated with vitamin D deficiency. The mutation caused the protein to be cut short, rendering it inactive. In the study, published in the journal Frontiers in Endocrinology, the researchers used CRISPR/Cas9 gene editing to transform the active form of SDR42E1 in a line of cells from a patient with colorectal cancer, called HCT116, into its inactive form. In HCT116 cells, the expression of SDR42E1 is usually abundant, suggesting that the protein is essential for their survival. Once the faulty SDR42E1 copy had been introduced, the viability of the cancer cells plummeted by 53 per cent, the researchers explained. The results suggest that inhibiting the gene can selectively kill cancer cells, while leaving neighbouring cells unharmed. 'Our results open new potential avenues in precision oncology, though clinical translation still requires considerable validation and long-term development,' said Dr Nagham Nafiz Hendi, Professor at Middle East University in Amman, Jordan. 'Because SDR42E1 is involved in vitamin D metabolism, we could also target it in any of the many diseases where vitamin D plays a regulatory role,' said Nemer. However, as long-term effects of SDR42E1 on vitamin D balance remain to be fully understood, the researchers stressed the need for further studies.
Medscape
14-05-2025
- Health
- Medscape
Genotype-Based FSH Choice Boosts IVF Outcomes
Follicle-stimulating hormone receptor (FSHR) N680S–genotyped women treated with either recombinant FSH or urinary FSH had higher pregnancy rates of 51% vs 40% in non-genotyped control individuals. This personalized approach also improved cumulative live birth rates to 40% vs 29% in non-genotyped control individuals. METHODOLOGY: A total of 475 women undergoing in vitro fertilization (IVF) were randomized to receive either recombinant FSH or urinary FSH for ovarian stimulation, with their FSHR N680S variant analyzed afterward. Researchers compared outcomes between 221 optimally treated women (based on FSHR genotype) and 991 non-genotyped control individuals, with adjustment for age, body mass index, and fertilization method. Clinical data were supported by laboratory experiments where COS-1 cells were transfected with homozygous FSHR variants and stimulated with either urinary FSH or recombinant FSH to evaluate receptor activity. Primary outcomes were cumulative pregnancy rates and clinical live birth rates for all treatments related to the first ovarian stimulation cycle. TAKEAWAY: Women who underwent genotype-guided FSH selection showed significantly higher pregnancy rates (51% vs 40%; odds ratio [OR], 1.40; 95% CI, 1.12-1.75; P = .003) and live birth rates (40% vs 29%; OR, 1.55; 95% CI, 1.23-1.96; P < .001) than non-genotyped control individuals. = .003) and live birth rates (40% vs 29%; OR, 1.55; 95% CI, 1.23-1.96; < .001) than non-genotyped control individuals. Urinary FSH proved optimal for S-allele carriers, while recombinant FSH showed better results for asparagine homozygous carriers, with 33% more oocytes retrieved in NN-genotype women treated with recombinant FSH. In vitro experiments revealed the S variant displayed higher extracellular cyclic adenosine monophosphate when stimulated with urinary FSH vs recombinant FSH (10 IU: 176 vs 39 pmol/mg; P = .002; 90 IU: 227 vs 58 pmol/mg; P = .007). IN PRACTICE: 'In the context of applying precision medicine to OS [ovarian stimulation] prior to IVF, the most important finding was an 11% higher CLBR [cumulative life birth rate] in the first OS cycle in women who had been treated with the type of FSH that best matched their FSHR N680S genotype as compared to non-genotyped controls,' the authors of the study wrote. SOURCE: The study was led by Ida Hjelmér, Department of Translational Medicine, Lund University, Malmö, Sweden. It was published online in Frontiers in Endocrinology . LIMITATIONS: The study was not sufficiently powered to evaluate the effect of the precision medicine concept on miscarriage or ovarian hyperstimulation syndrome risk. Results cannot be extrapolated to women with polycystic ovary syndrome, endometriosis, or other excluded conditions. The study comprised only women undergoing their first ovarian stimulation cycle, limiting its applicability to those requiring multiple treatments. DISCLOSURES: The study was funded by EU Interreg NYPS 20201846 and an ALF government grant. Aleksander Giwercman reported receiving an unrestricted grant from Ferring Pharmaceuticals to the ReproUnion research network and a lecture fee from Merck Serono. Additional disclosures are noted in the original article.
India Today
14-05-2025
- Health
- India Today
New saliva test aims to reduce IVF side effects and improve pregnancy rates
A simple saliva test can help improve the chances of IVF, according to a new study by Swedish findings, published in peer-reviewed Frontiers in Endocrinology, has found that a genetic test could reduce harmful side effects for women undergoing fertility by Yvonne Lundberg Giwercman from Lund University, the research highlights how personalised hormone therapy, based on a woman's genetic makeup, can lead to more successful About 15% of couples of reproductive age struggle with infertility. A growing number of people are postponing parenthood, leading to a sharp increase in assisted reproduction methods like IVF treatments come with challenges. The procedure involves hormone therapy to stimulate egg production, but nearly 75% of IVF attempts to 20% of women experience side effects, some requiring emergency care.'A major issue is that doctors currently have to guess which hormone treatment is best for each woman,' said Ida Hjelmr, the study's first author and a laboratory researcher at Lund find a solution, the team analysed the genes of 1,466 women undergoing discovered that women with a specific version of the FSH receptor gene responded better to biological hormones, while others did better with synthetic matching treatment to genetic type, success rates improved significantly.'We saw a 38% increase in births among women who received hormone therapy that matched their gene variation. That's 110 more babies for every 1,000 women treated,' said make this process faster and more accessible, the team developed a simple oral swab test that shows the ideal hormone treatment within an hour, visible as a pink or yellow test is expected to be available by early 2026, said Giwercman, who is also the CEO of the company that developed the oral swab researchers have applied for a patent and launched a company, Dx4Life AB, to bring the product to hope the test will lead to more successful IVF outcomes while reducing health risks and healthcare Watch
Hans India
14-05-2025
- Health
- Hans India
Swab test breakthrough could revolutionise IVF success rates: Swedish scientists lead the way
In a major breakthrough for reproductive medicine, Swedish researchers have developed a simple oral swab test that could significantly improve the success rates of in vitro fertilisation (IVF). The innovation, led by a team at Lund University, aims to personalise IVF treatment by identifying the most suitable hormone therapy for each woman—within just one hour. IVF typically involves stimulating a woman's ovaries to produce multiple eggs, which are then retrieved, fertilised in a laboratory, and implanted into the uterus. However, selecting the appropriate hormone therapy—biological or synthetic—to trigger egg maturation has long posed challenges. The wrong choice not only reduces the chances of a successful pregnancy but may also cause severe side effects that could require intensive care. Traditionally, determining the best hormone treatment required complex and expensive genetic mapping. The new swab test, however, offers a quick and cost-effective alternative. With results visible to the naked eye in either pink or yellow, the test determines which hormone therapy is most compatible with a woman's genetic makeup. 'Our hope is that this will reduce the risk of suffering for women, increase the number of successful treatments, and cut costs for taxpayers,' said Professor Yvonne Lundberg Giwercman, who led the study. 'Our goal is for the test to be available by the start of 2026.' The study, published in Frontiers in Endocrinology, involved 1,466 women undergoing IVF treatment across Sweden. Of these, 475 participants were randomly assigned one of the two hormone therapies, while the remainder served as controls. Researchers used gene sequencing to identify a specific variant of the follicle-stimulating hormone receptor (FSHR) gene that influences response to treatment. Women with this particular gene variant responded better to biological hormones, while others had more success with synthetic alternatives. With this test, clinicians can now tailor treatment plans more effectively, potentially increasing the chances of pregnancy while reducing medical risks. This new advancement is a hopeful sign for couples struggling with infertility and marks a pivotal shift toward personalised reproductive care.
