Gene critical in vitamin D metabolism linked to cancer

A gene involved in how the body absorbs and uses vitamin D has been found to influence essential pathways related to cellular metabolism and cancer growth.

Vitamin D is needed by the body to produce calcitrol: a hormone that helps the body absorb calcium and phosphorus, keeping bones healthy and the immune system functioning. Even when enough vitamin D is available, the body's ability to absorb and process it depends on a set of genes and proteins, including SDR42E1, which encodes a regulatory enzyme.

'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 study author Georges Nemer, professor of genomics and translational biomedicine at the Hamad Bin Khalifa University in Qatar. 'For example, nutrition studies have indicated that the hormone can lower the risk of cancer, kidney disease, and autoimmune and metabolic disorders.'

In a study published in Frontiers in Endocrinology, Professor Nemer and colleagues used CRISPR/Cas9 genome editing to alter the expression of SDR42E1 in human colon cancer cells. By introducing a mutation previously linked with vitamin D deficiency, they found that blocking SDR42E1 affected the expression of more than 4600 other genes and reduced the survival of cancer cells by more than half. Further experiments showed that restoring SDR42E1 activity reversed these effects.

The function of SDR42E1 was not well understood until now. The study revealed its role in managing how vitamin D is absorbed and broken down in the cells of the intestine, and regulating other genes linked to metabolism, inflammation, and cancer growth.

The authors believe that the discovery of these links between SDR42E1, vitamin D, and cancer survival could pave the way for innovative therapies, both for treating vitamin D deficiency and for cancer interventions. However, more research is needed before any clinical applications can be considered.

'SDR42E1 is linked to lipid metabolism. Disrupting it may affect systemic pathways, including bone marrow function, immune cell regulation, or endocrine signalling,' Dr Shishir Shetty, a senior consultant in surgical oncology at the Fortis Hiranandani Hospital in Mumbai, India (who was not involved in the study) told Business Standard. 'Any intervention must ensure that silencing this gene doesn't induce long-term metabolic, immunological, or skeletal side effects.'