title: Association of alcoholism with the N-glycosylation polymorphism of pseudodeficient human arylsulfatase A.
abstract: 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.
authors.affiliation: Department of Biochemistry and Microbiology, Rutgers University, New Brunswick, New Jersey, USA.
authors.forename: D S
authors.initials: DS
authors.lastname: Park
authors.forename: R D
authors.initials: RD
authors.lastname: Poretz
authors.forename: S
authors.initials: S
authors.lastname: Stein
authors.forename: R
authors.initials: R
authors.lastname: Nora
authors.forename: P
authors.initials: P
authors.lastname: Manowitz
mesh_terms: D000328:Adult; D000437:Alcoholism / Q000235:genetics*; D002553:Cerebroside-Sulfatase / Q000172:deficiency / Q000235:genetics*; D005260:Female; D005838:Genotype; D006031:Glycosylation; D006801:Humans; D007527:Isoenzymes / Q000172:deficiency / Q000235:genetics*; D007966:Leukodystrophy, Metachromatic / Q000235:genetics; D008297:Male; D001523:Mental Disorders / Q000235:genetics; D008875:Middle Aged; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D012016:Reference Values
chemical_list: D007527:Isoenzymes; D002553:Cerebroside-Sulfatase