title: 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.affiliation: Molecular Neurobiology Laboratory, McLean Hospital, Harvard Medical School, Belmont, Massachusetts 02478, USA.
authors.forename: Sonhae
authors.initials: S
authors.lastname: Cho
authors.forename: Chun-Hyung
authors.initials: CH
authors.lastname: Kim
authors.forename: Joseph F
authors.initials: JF
authors.lastname: Cubells
authors.forename: Cyrus P
authors.initials: CP
authors.lastname: Zabetian
authors.forename: Dong-Youn
authors.initials: DY
authors.lastname: Hwang
authors.forename: Jang-Woo
authors.initials: JW
authors.lastname: Kim
authors.forename: Bruce M
authors.initials: BM
authors.lastname: Cohen
authors.forename: Italo
authors.initials: I
authors.lastname: Biaggioni
authors.forename: David
authors.initials: D
authors.lastname: Robertson
authors.forename: Kwang-Soo
authors.initials: KS
authors.lastname: Kim
mesh_terms: D001342:Autonomic Nervous System Diseases / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D004252:DNA Mutational Analysis; D004299:Dopamine beta-Hydroxylase / Q000235:genetics*; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D019578:Multiple System Atrophy / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D009154:Mutation; D011110:Polymorphism, Genetic
chemical_list: D004299:Dopamine beta-Hydroxylase