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Gene needed to absorb vitamin D could help develop new treatments for cancer and autoimmune diseases
Last reviewed: 27.07.2025
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Vitamin D is not only a vital nutrient, but also a precursor to the hormone calcitriol, which is essential for health. It regulates the absorption of phosphate and calcium in the intestines, which are essential for bones, as well as cell growth and the proper functioning of muscles, nerve cells, and the immune system.
Now, researchers have shown for the first time in Frontiers in Endocrinology that a particular gene called SDR42E1 plays a key role in the absorption of vitamin D from the gut and its subsequent metabolism – a discovery with a host of potential applications in precision medicine, including cancer therapy.
“Here we have shown that blocking or inhibiting SDR42E1 can selectively stop the growth of cancer cells,” said Dr. Georges Nemer, professor and vice dean for research at the University College of Health and Life Sciences at Hamad Bin Khalifa University in Qatar and lead author of the study.
Defective copy
Nemer and his colleagues were inspired by earlier research that found that a specific mutation in the SDR42E1 gene on chromosome 16 was associated with vitamin D deficiency. The mutation resulted in the protein being shortened and inactive.
The scientists used CRISPR/Cas9 genome editing to convert the active form of SDR42E1 in a patient's colorectal cancer cell line (HCT116) to an inactive form. HCT116 cells typically express high levels of SDR42E1, suggesting that the protein is essential for their survival.
After introducing a defective copy of SDR42E1, the viability of cancer cells plummeted by 53%. The expression of at least 4,663 downstream genes was altered, suggesting that SDR42E1 is an important molecular switch in many reactions essential for cellular health. Many of these genes are commonly involved in cancer-related signaling pathways and in the absorption and metabolism of molecules like cholesterol, consistent with SDR42E1’s central role in calcitriol synthesis.
These results suggest that gene inhibition may selectively kill cancer cells without affecting nearby healthy cells.
Double effect
“Our results open up new potential avenues in precision oncology, although significant validation and long-term development are still required for clinical application,” said Dr. Nagham Nafees Hendi, a professor at the Near East University in Amman, Jordan, and first author of the study.
However, depriving individual cells of vitamin D is not the only possible application that immediately came to mind. The current results show that SDR42E1 works in two ways: artificially increasing SDR42E1 levels in local tissues using gene technology may also be beneficial, taking advantage of the many known positive effects of calcitriol.
"Because SDR42E1 is involved in vitamin D metabolism, we can also target it in a variety of diseases where vitamin D plays a regulatory role," Nemer noted.
"For example, nutritional studies have shown that this hormone may reduce the risk of cancer, kidney disease, autoimmune and metabolic disorders. But such broader applications must be undertaken with caution, as the long-term effects of SDR42E1 on vitamin D balance have yet to be fully studied."