VANCOUVER, OCTOBER 20. Exciting work on a Drosophila model of a rare human genetic disease and a provocative study showing that ancient human history is much more complex than previously thought were among many highlights of the third day of the American Society of Human Genetics (ASHG) annual meeting in Vancouver, Canada. Researchers studying Drosophila fruit flies have found that, in flies, providing a common dietary supplement prevents death caused by Pngl deficiency, the fly analog of the human genetic disorder N-Glycanase 1 (NGLY1) deficiency. NGLY1 deficiency, a rare, autosomal recessive disease, was first defined just four years ago and has been diagnosed in about 60 individuals worldwide, explained presenter Clement Y. Chow (photo), Ph.D., Assistant Professor in the Department of Human Genetics at the University of Utah and lead author on the study. People with this disease experience developmental delays, difficulty with movement, problems with liver function, and alacrima, the inability to produce tears. Symptoms are severe, starting from birth, and patients tend to live for less than ten years. The disease is caused by a lack of the enzyme NGLY1, which plays an important role in degrading misfolded proteins in the cell. Researchers believe that without NGLY1, these proteins accumulate in the cell's cytoplasm, remaining bound to, and depleting the cell's supply of, GlcNAc, a sugar available widely as the dietary supplement N-acetylglucosamine. NGLY1 is remarkably conserved across species, and the Drosophila analog Pngl is thought to play a similar, equally critical role in flies. In a cohort of flies engineered to lack a functional copy of Pngl, just 18 percent survive to adulthood. “Because GlcNAc is non-toxic and so widely available, we thought we’d try providing flies with it as a supplement to restore the cell's supply," Dr. Chow said.
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