A Single Gene Variant, Once an Evolutionary Edge, Now Seen to Promote Diseases Like IBD

A Single Gene Variant, Once an Evolutionary Edge, Now Seen to Promote Diseases Like IBD
An alteration in a single gene, the Fads1 gene, may determine the risk for certain diseases, including inflammatory syndromes like inflammatory bowel disease (IBD). The study tracing the gene in human evolution and its effects, “PATZ1 down-regulates FADS1 by binding to rs174557 and is opposed by SP1/SREBP1c,” was published in the journal Nucleic Acids Research. Two genes, called Fads1 and Fads2, are responsible for encoding the proteins (in this case, enzymes) involved in the processing of long-chain polyunsaturated fatty acids (LC-PUFAs). Linoleic acid (LA), an omega-6 fatty acid, and α-linolenic acid (ALA), an omega-3 fatty acid, are essential fatty acids for humans, because we cannot synthesize them. They need to be acquired directly through diet. Perturbations to the metabolism of LC-PUFAs are a potential risk factor for several diseases, including inflammatory and autoimmune diseases, such as IBD. Previous studies suggested that variations in the gene sequence of Fads genes affected the synthesis of LC-PUFAs and, consequently, the risk for certain diseases. But which specific variations remained unknown. Researchers at the Uppsala University/SciLifeLab in Sweden, investigating this subject, identified a mutation (gene defect) in the region encoding the Fads1. The scientists showed that this region, which is now restricted to humans and chimpanzees, appeared 6 million years ago. They hypothesize that, since increased production of omega-3 and omega-6 is important for brain development, this genomic region may h
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  1. Adrian says:

    Is it a gain or loss of function mutation? The article isint super clear. And does it increase/decrease metabolism of omega 6 and 3 equally or differently?

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