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Variations in the dopamine β‐hydroxylase gene are not associated with the autonomic disorders, pure autonomic failure, or multiple system atrophy
Author(s) -
Cho Sonhae,
Kim ChunHyung,
Cubells Joseph F.,
Zabetian Cyrus P.,
Hwang DongYoun,
Kim JangWoo,
Cohen Bruce M.,
Biaggioni Italo,
Robertson David,
Kim KwangSoo
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20194
Subject(s) - pure autonomic failure , autonomic nervous system , medicine , endocrinology , orthostatic vital signs , atrophy , norepinephrine , allele , tyrosine hydroxylase , dopamine , biology , gene , genetics , blood pressure , heart rate
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 β‐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. © 2003 Wiley‐Liss, Inc.