Variations in the dopamine beta-hydroxylase gene are not associated with the autonomic disorders, pure autonomic failure, or multiple system atrophy.
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.
Cho
Sonhae
S
Molecular Neurobiology Laboratory, McLean Hospital, Harvard Medical School, Belmont, Massachusetts 02478, USA.
Kim
Chun-Hyung
CH
Cubells
Joseph F
JF
Zabetian
Cyrus P
CP
Hwang
Dong-Youn
DY
Kim
Jang-Woo
JW
Cohen
Bruce M
BM
Biaggioni
Italo
I
Robertson
David
D
Kim
Kwang-Soo
KS
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
D004299:Dopamine beta-Hydroxylase