Ricketts M H, Amsterdam J D, Park D S, Yang R S, Poretz R D, Zhang X, Fanale M, Baddoo A, Manowitz P
Department of Psychiatry, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, Piscataway 08854, USA.
J Affect Disord. 1996 Oct 14;40(3):137-47. doi: 10.1016/0165-0327(96)00051-1.
A new, 'diffuse, multiple banding', electrophoretic variant of arylsulfatase A protein was found in two patients with major depression. Protein analyses showed that this variant and the normal enzyme differed in amino acid sequence and/or post-translational modifications unrelated to phosphate groups and oligomannose glycans. Analysis of the arylsulfatase A genes from a subject with the new variant identified three mutations; one gene had the two mutations associated with arylsulfatase A pseudodeficiency, and the other had a G to T transversion which changes a tryptophan to cysteine in the protein. These mutations result in an arylsulfatase A protein heteromer with diffuse electrophoretic banding. The possible association of these mutations with major depression is discussed.
在两名重度抑郁症患者中发现了一种新的芳基硫酸酯酶A蛋白的“弥漫性、多条带”电泳变体。蛋白质分析表明，该变体与正常酶在氨基酸序列和/或与磷酸基团及低聚甘露糖聚糖无关的翻译后修饰方面存在差异。对一名具有新变体的受试者的芳基硫酸酯酶A基因进行分析，发现了三个突变；一个基因具有与芳基硫酸酯酶A假缺陷相关的两个突变，另一个基因发生了G到T的颠换，该颠换使蛋白质中的色氨酸变为半胱氨酸。这些突变导致了具有弥漫性电泳条带的芳基硫酸酯酶A蛋白异聚体。讨论了这些突变与重度抑郁症的可能关联。
