Gene discovery could lead to new treatments for cancer and other diseases tied to vitamin D deficiency

Vitamin D plays a vital role in the human body, far beyond just keeping bones strong. It helps your muscles move, allows your nerves to carry messages, supports your immune system, and helps control how cells grow and divide. Even more, vitamin D is converted by your body into calcitriol, a hormone that helps your intestines absorb calcium and phosphate—both essential for bone health and cellular function.

But millions of people don’t get enough vitamin D. This lack is not always about sunlight or diet. Scientists now know that genes can also affect how much vitamin D your body actually uses.

A team of researchers has just made a big discovery: a gene called SDR42E1 plays a central role in how the body takes in and uses vitamin D. The new study, published in Frontiers in Endocrinology, highlights how this gene could lead to new treatments for cancer and other diseases tied to vitamin D deficiency.

The research was led by Dr. Georges Nemer, a professor and associate dean for research at the College of Health and Life Sciences at Hamad Bin Khalifa University in Qatar. He and his colleagues focused on a rare mutation in SDR42E1, located on chromosome 16, which had previously been linked to low vitamin D levels. This mutation causes the protein made by the gene to be incomplete and nonfunctional.

To test the gene’s role in cancer, the team used CRISPR/Cas9 gene editing technology. They altered the SDR42E1 gene in a line of colorectal cancer cells known as HCT116. Normally, these cells have high amounts of SDR42E1, suggesting they rely on it to stay alive. Once the gene was changed into its faulty version, the cancer cells couldn’t survive. Their numbers dropped by more than half.

This genetic change caused major disruptions in the cells’ inner workings. The expression of 4,663 other genes shifted—many of which are tied to cell growth signals and how the body handles cholesterol-like molecules. These molecules are important for creating calcitriol, which means SDR42E1 may be the gatekeeper in a huge chain of cellular events. “This shows that blocking or inhibiting SDR42E1 may selectively stop the growth of cancer cells,” said Nemer.

Dr. Nagham Nafiz Hendi, the study’s lead author and a professor at Middle East University in Jordan, believes this research could open new doors in the field of personalized cancer treatments. “Our results open new potential avenues in precision oncology, though clinical translation still requires considerable validation and long-term development," she said.

But the story doesn’t end with just blocking the gene to fight cancer. The researchers also see potential in boosting its activity. Turning SDR42E1 “up” in specific tissues could help the body better absorb and use vitamin D. That might help people facing diseases linked to low vitamin D, such as autoimmune, kidney, or metabolic disorders.

“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. Nutrition studies have shown that calcitriol, the active vitamin D form, can reduce risks for cancer and kidney disease. But researchers must approach SDR42E1 treatments with caution. “Such broader applications must be done with caution, as long-term effects of SDR42E1 on vitamin D balance remain to be fully understood," warned Hendi.

Targeting SDR42E1 in cancer cells—without harming nearby healthy cells—marks a major step toward safer precision medicine. Current cancer treatments often damage healthy tissues and cause serious side effects. A therapy that targets only cancer cells could avoid many of those problems. This gene may help researchers build treatments with fewer complications.

Using gene editing tools, the team showed that one gene can affect thousands of cellular processes. That level of control could lead to safer and more accurate treatments for many serious diseases.

The researchers say their study is still in its early stages. They need to test SDR42E1 treatments in animals before moving to human trials. Only with more studies can doctors know if this gene target is safe and effective long term. Even so, the discovery opens many new research directions.

Scientists are especially interested in adjusting SDR42E1 activity through gene therapy to treat diseases or boost overall health. Vitamin D affects many parts of the body, including bones, the immune system, and cell growth. Treatments involving this pathway must avoid unwanted side effects by using careful and targeted designs.

For now, the research offers a promising look at how one gene can influence many areas of human health. Whether it's used to destroy cancer cells or help absorb vitamin D, SDR42E1 could become a powerful tool in medicine.

Note: The article above provided above by The Brighter Side of News.

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