Media Contact:
Nalini Padmanabhan
ASHG Communications Manager
301.634.7346
press@ashg.org
For Immediate Release
Thursday, October 20, 2016
11:30 a.m. U.S. Pacific Time
Findings Reported at ASHG 2016 Annual Meeting
BETHESDA, MD – 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. Findings were reported at the American Society of Human Genetics (ASHG) 2016 Annual Meeting in Vancouver, B.C.
NGLY1 deficiency, a rare, autosomal recessive disease, was first defined four years ago and has been diagnosed in about 60 individuals worldwide, explained Clement Y. Chow, PhD, 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.
It 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 consistent 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. He and his colleagues treated a cohort of Pngl-deficient flies with GlcNAc from birth. In this group, nearly 70 percent survived to adulthood.
While the results are dramatic, many steps remain before this approach could be tested for potential implementation in humans, Dr. Chow cautioned. The study took place in a Drosophila flies, and there are key differences between fly and human biology to consider. In addition, the flies were given GlcNAc supplement since birth. This would be nearly impossible in humans, who are severely affected even as infants and are unlikely to be diagnosed for at least the first several months of life.
“Even if such a treatment could alleviate symptoms, it would not be a cure – patients would still be unable to produce NGLY1,” he added.
Nevertheless, the researchers are hopeful about its potential. They are starting to study the pathway involved to better understand how GlcNAc restores proper cell function in flies and whether it might have the same effect in humans. They are also exploring testing the treatment in mice.
Presentation:
Dr. Chow will present his research on Thursday, October 20, 2016, from 11:30-11:45 a.m., in Room 302 of the Vancouver Convention Centre, West Building.
Press Availability:
Dr. Chow will be available to discuss this research with interested media on Thursday, October 20, 2016, from 1:00-1:45 p.m. in the ASHG 2016 Press Office (Room 111).
Reference:
Chow C et al. (2016 Oct 20). Abstract: Diet rescues lethality in a model of NGLY1 deficiency, a rare deglycosylation disorder. Presented at the American Society of Human Genetics 2016 Annual Meeting. Vancouver, B.C., Canada.
About the American Society of Human Genetics (ASHG)
Founded in 1948, the American Society of Human Genetics is the primary professional membership organization for human genetics specialists worldwide. Its nearly 8,000 members include researchers, academicians, clinicians, laboratory practice professionals, genetic counselors, nurses, and others with an interest in human genetics. The Society serves scientists, health professionals, and the public by providing forums to: (1) share research results through the ASHG Annual Meeting and in The American Journal of Human Genetics; (2) advance genetic research by advocating for research support; (3) educate current and future genetics professionals, health care providers, advocates, policymakers, educators, students, and the public about all aspects of human genetics; and (4) promote genetic services and support responsible social and scientific policies. For more information, visit: http://wptest.ashg.org.
9650 Rockville Pike | Bethesda, MD 20814 | 301.634.7300 | society@ashg.org | www.ashg.org
Connect with ASHG on Twitter (@GeneticsSociety) | Facebook | LinkedIn