Park D S, Poretz R D, Stein S, Nora R, Manowitz P
Department of Biochemistry and Microbiology, Rutgers University, New Brunswick, New Jersey, USA.
Alcohol Clin Exp Res. 1996 Apr;20(2):228-33. doi: 10.1111/j.1530-0277.1996.tb01634.x.
The IIIa and IIIb electrophoretic variants of arylsulfatase A (EC 3.1.6.8) are 12 times more prevalent in alcoholic than in nonalcoholic populations. These variant enzymes, found in a subset of alcoholics, possess the pseudodeficient Asn350-Ser mutation of arylsulfatase A and, consequently, lack an N-linked glycan unit. These genetically determined variants of arylsulfatase A show reduced intracellular half-life, and cells from such individuals possess reduced enzymic activity. We propose that this polymorphism is an underlying genetic and biochemical factor contributing to the neuropathology and/or addiction pathway of this disease.
芳基硫酸酯酶A（EC 3.1.6.8）的IIIa和IIIb电泳变体在酗酒人群中的流行率是非酗酒人群的12倍。在一部分酗酒者中发现的这些变体酶具有芳基硫酸酯酶A的假缺陷型Asn350-Ser突变，因此缺乏一个N-连接聚糖单元。这些由基因决定的芳基硫酸酯酶A变体显示出细胞内半衰期缩短，并且来自这类个体的细胞具有降低的酶活性。我们提出，这种多态性是导致该疾病神经病理学和/或成瘾途径的潜在遗传和生化因素。
