{"id":9230,"date":"2022-01-13T00:29:01","date_gmt":"2022-01-12T16:29:01","guid":{"rendered":"https:\/\/newsletter.sinica.edu.tw/en\/?p=9230"},"modified":"2024-03-13T09:19:58","modified_gmt":"2024-03-13T01:19:58","slug":"pias1-variant-s510g-is-a-protective-genetic-modifier-of-huntingtons-disease","status":"publish","type":"post","link":"https:\/\/newsletter.sinica.edu.tw/en\/9230\/","title":{"rendered":"PIAS1 Variant S510G is a protective genetic modifier of Huntington\u2019s disease"},"content":{"rendered":"
CAG repeat length is a determinant of the age-at-onset of polyglutamine-related diseases, including Huntington\u2019s disease. Some patients have significantly earlier or later age-at-onset, suggesting the presence of genetic modifier(s). A work in Movement Disorders<\/em> conducted by Dr. Yijuang Chern\u2019s group, at the Institute of Biomedical Sciences, demonstrated that PIAS1 is a genetic modifier of polyglutamine diseases. The naturally occurring variant PIAS1S510G interacts with mHTT poorly and thus lowers the SUMOylation and accumulation of mHTT. Knock-in of PIAS1S510G ameliorates Huntington\u2019s disease phenotypes in mice. PIAS1 is a drug target for HD.<\/p>\n