Key vitamin D gene may unlock new cancer, autoimmune treatments

Scientists find that SDR42E1 gene, vital for vitamin D use, could be targeted to treat cancers and immune disorders without harming healthy cells

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.”   

   

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This report is for informational purposes only and is not a substitute for professional medical advice.