Cooper A J, Sheu K F, Burke J R, Onodera O, Strittmatter W J, Roses A D, Blass J P
Age (Omaha). 1998 Jan;21(1):25-30. doi: 10.1007/s11357-998-0004-x.
At least seven adult-onset neurodegenerative diseases, including Huntington's disease (HD), are caused by genes containing expanded CAG triplets within their coding regions. The expanded CAG repeats give rise to extended stretches of polyglutamines (Qn) in the proteins expressed by the affected genes. Generally, n ≥40 in affected individuals and ≤36 in clinically unaffected individuals. The expansion has been proposed to confer a "toxic gain of function" to the mutated protein. Poly-Q domains have recently been shown to be excellent substrates of tissue transglutaminase. We investigated the effects of expression of glutathione S-transferase constructs containing poly-Q inserts of various lengths (GSTQn where n = 0, 10, 62 or 81) on the activity of some key metabolic enzymes in the host Escherischia coil-an organism not known to have transglutaminase activity. E. coil carrying the GSTQ62 construct exhibited statistically significant decreases in the specific activities of α-ketoglutarate dehydrogenase complex (KGDHC) and pyruvate dehydrogenase complex (PDHC). Previous work has shown that KGDHC and PDHC activities are reduced in the brains of Alzheimer's disease (AD) patients. Our results suggest that KGDHC and PDHC may be particularly susceptible to the effects of a number of disparate insults, including those associated with AD and HD.
至少七种成人发病的神经退行性疾病,包括亨廷顿舞蹈症(HD),是由编码区域内含有扩展CAG三联体的基因引起的。扩展的CAG重复序列导致受影响基因所表达的蛋白质中出现延伸的多聚谷氨酰胺(Qn)序列。一般来说,患病个体中n≥40,而临床未患病个体中n≤36。这种扩展被认为赋予了突变蛋白“毒性功能获得”。最近研究表明,多聚Q结构域是组织转谷氨酰胺酶的优良底物。我们研究了含有不同长度多聚Q插入片段(GSTQn,其中n = 0、10、62或81)的谷胱甘肽S-转移酶构建体的表达对宿主大肠杆菌(一种未知具有转谷氨酰胺酶活性的生物体)中一些关键代谢酶活性的影响。携带GSTQ62构建体的大肠杆菌在α-酮戊二酸脱氢酶复合体(KGDHC)和丙酮酸脱氢酶复合体(PDHC)的比活性上表现出统计学上的显著降低。先前的研究表明,阿尔茨海默病(AD)患者大脑中的KGDHC和PDHC活性降低。我们的结果表明,KGDHC和PDHC可能特别容易受到多种不同损伤的影响,包括与AD和HD相关的损伤。