Critical Gene for Vitamin D Absorption Could Pave the Way for New Cancer and Autoimmune Treatments

Vitamin D plays a vital role in maintaining overall health, functioning as a precursor to the hormone calcitriol. This hormone is essential for regulating the absorption of phosphate and calcium necessary for healthy bones, as well as supporting cell growth, muscle function, nerve signaling, and immune response.

Recent research published in Frontiers in Endocrinology has uncovered the significant role of a specific gene, SDR42E1, in the process of vitamin D uptake and metabolism within the gut. This discovery could have profound implications for personalized medical approaches, especially in cancer therapy. According to Dr. Georges Nemer from Hamad Bin Khalifa University, inhibiting SDR42E1 may enable targeted suppression of cancer cell growth while sparing healthy cells.

The study was inspired by previous findings indicating that mutations in the SDR42E1 gene, located on chromosome 16, are linked to vitamin D deficiency. The researchers employed CRISPR/Cas9 gene editing to alter the gene in colorectal cancer cells (HCT116). When the active form of SDR42E1 was rendered inactive, the cancer cells' viability dropped by over half, and thousands of genes related to cell signaling and metabolism were affected. This highlights the gene’s role as a molecular switch controlling critical pathways in cell survival.

These findings suggest that targeting SDR42E1 could serve as a novel strategy in cancer treatment, with the potential to develop therapies that selectively eliminate cancer cells. Moreover, there is interest in exploring the benefits of increasing SDR42E1 activity to boost vitamin D levels, which could help combat various diseases influenced by this hormone, including certain cancers and autoimmune disorders. However, cautious evaluation of long-term effects on vitamin D regulation is necessary.

Dr. Nemer emphasized that while these findings open new avenues in precision oncology, extensive validation and development are required before clinical application. The possibility of manipulating SDR42E1 in broader disease contexts underscores its importance in future medical research.

This research underlines the crucial link between vitamin D metabolism and disease, offering promising directions for novel treatments based on genetic modulation.