New Delhi, (IANS): 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. Gene essential for vitamin D absorption may boost cancer treatment | MorungExpress | morungexpress.com

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A breakthrough cure for blindness may have been reached after a study on mice showed that vision loss can be treated with a chemical injection to the eye. Experts hope that further experiments will lead to a treatment for humans. The chemical, which temporarily restores partial vision in blind mice, was discovered by a research team at the University of California, Berkeley, in association with the University of Munich and Seattle’s University of Washington. The substance, known as acrylamide-azobenzene-quaternary ammonium (AAQ), makes cells in the retina, the light-sensitive membrane in the back of the eye, more receptive. The rodents used in the experiment had congenital mutations that made the light-sensitive cells (rods and cones) inside their eyes wither within months after birth. Injections of AAQ into their eyes briefly restored their ability to see light. This approach "offers real hope to patients with retinal degeneration," study co-author Dr. Russell Van Gelder of the University of Washington in Seattle said in a press release. "We still need to show that these compounds are safe and will work in people the way they work in mice, but these results demonstrate that this class of compound restores light sensitivity to retinas blind from genetic disease." If this new approach is successful, it could be used to treat retinitis pigmentosa, the most common inherited mode of blindness, and age-related macular degeneration, the most common cause of acquired blindness in underdeveloped nations. In both cases, the retina’s rods and cones die, rendering the eye blind from a lack of photoreceptors. The AAQ remedy only lasts for about 24 hours, but scientists are set to conduct further research with more sophisticated versions of the compound. “The advantage of this approach is that it is a simple chemical, which means that you can change the dosage, you can use it in combination with other therapies, or you can discontinue the therapy if you don't like the results,” says Richard Kramer, a professor of molecular and cell biology at the University of California, Berkeley, to the school’s newspaper. “As improved chemicals become available, you could offer them to patients. You can't do that when you surgically implant a chip or after you genetically modify somebody.” 
