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

Abstract

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.

• Authors: Sonhae Cho, Chun-Hyung Kim, Joseph F Cubells, Cyrus P Zabetian, Dong-Youn Hwang, Jang-Woo Kim, Bruce M Cohen, Italo Biaggioni, David Robertson, Kwang-Soo Kim
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 120A Issue 2 Pg. 234-6 (Jul 15 2003) ISSN: 1552-4825 [Print] United States
• PMID: 12833405 (Publication Type: Comparative Study, Journal Article, Research Support, U.S. Gov't, P.H.S.)
• Copyright: Copyright 2003 Wiley-Liss, Inc.

Chemical References

• Dopamine beta-Hydroxylase

Topics

• Autonomic Nervous System Diseases (diagnosis, etiology, genetics)
• DNA Mutational Analysis
• Dopamine beta-Hydroxylase (genetics)
• Gene Frequency
• Genetic Variation
• Genotype
• Humans
• Multiple System Atrophy (diagnosis, etiology, genetics)
• Mutation
• Polymorphism, Genetic