Variations in the dopamine beta-hydroxylase gene are not associated with the autonomic disorders, pure autonomic failure, or multiple system atrophy.

Cho S, Kim CH, Cubells JF, Zabetian CP, Hwang DY, Kim JW, Cohen BM, Biaggioni I, Robertson D, Kim KS
Am J Med Genet A. 2003 120A (2): 234-6

PMID: 12833405 · DOI:10.1002/ajmg.a.20194

Norepinephrine (NE) is the major neurotransmitter of the sympathetic division of the autonomic nervous system (ANS). Recent findings of an association between human NE deficiency and variants at the dopamine beta-hydroxylase (DBH) gene [Kim et al., 2002] prompted us to investigate these markers in patients with autonomic disorders; 38 with orthostatic intolerance (OI), 26 with pure autonomic failure (PAF), and 39 with multiple system atrophy (MSA). Eighty-eight normal controls were included in this study. In contrast to NE deficiency, allele frequency and genotype distribution of the genetic variants showed no differences between autonomic disease patients and controls. In addition, no DBH mutation was found that distinguished autonomic disease patients from controls, suggesting that genetic variants of the DBH gene are not associated with the autonomic diseases OI, PAF, and MSA.

Copyright 2003 Wiley-Liss, Inc.

MeSH Terms (10)

Autonomic Nervous System Diseases DNA Mutational Analysis Dopamine beta-Hydroxylase Gene Frequency Genetic Variation Genotype Humans Multiple System Atrophy Mutation Polymorphism, Genetic

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