Association of Alcoholism with the N-Glycosylation Polymorphism of Pseudodeficient Human Arylsulfatase A.

Autor: Park, David S., Poretz, Ronald D., Stein, Stanley, Nora, Rena, Manowitz, Paul
Zdroj: Alcoholism: Clinical & Experimental Research; 1996, Vol. 20 Issue 2, p228-233, 6p
Abstrakt: 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. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index