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
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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.
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