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

American Journal of Medical Genetics

Volumn 120 A, Issue 2, 2003, Pages 234-236

  Cho, Sonhae ^a,b   Kim, Chun Hyung ^a   Cubells, Joseph F ^c,d   Zabetian, Cyrus P ^c,d   Hwang, Dong Youn ^a   Kim, Jang Woo ^a   Cohen, Bruce M ^a   Biaggioni, Italo ^e   Robertson, David ^e   Kim, Kwang Soo ^a  

^a MCLEAN HOSPITAL   (United States)

^b Kyung Hee University   (South Korea)

^c YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d VA CONNECTICUT HEALTHCARE SYSTEM   (United States)

^e VANDERBILT UNIVERSITY   (United States)

Author keywords

Association; Autonomic disease; Dopamine hydroxylase; Genetics; Mutation analysis

Indexed keywords

DOPAMINE BETA MONOOXYGENASE; GENOMIC DNA; NORADRENALIN;

ARTICLE; AUTONOMIC DYSFUNCTION; CONTROLLED STUDY; EXON; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; ORTHOSTATIC HYPOTENSION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; PURE AUTONOMIC FAILURE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SHY DRAGER SYNDROME;

AUTONOMIC NERVOUS SYSTEM DISEASES; DNA MUTATIONAL ANALYSIS; DOPAMINE BETA-HYDROXYLASE; GENE FREQUENCY; GENOTYPE; HUMANS; MULTIPLE SYSTEM ATROPHY; MUTATION; POLYMORPHISM, GENETIC; VARIATION (GENETICS);

EID: 0041321406     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Biaggioni I, Robertson RM, Robertson D. 1994. Manipulation of norepinephrine metabolism with yohimbine in the treatment of autonomic failure. J Clin Pharmacol 34:418-423.
2. Friedman S, Kaufman S. 1965. 3,4-Dihydroxyphenylethylamine β-hydroxylase. J Biol Chem 240:4763-4773.
3. Gilman S, Low PA, Quinn N, Albanese A, Ben-Shlomo Y, Fowler CJ, Kaufmann H, Klockgether T, Lang AE, Lantos PL, Litvan I, Mathias CJ, Oliver E, Robertson D, Schatz I, Wenning GK. 1998 . Consensus statement on the diagnosis of multiple system atrophy. J Auton Nerv Syst 74:189-192.
4. Kim CH, Zabetian CP, Cubells JF, Cho SH, Biaggioni I, Cohen BM, Robertson D, Kim KS. 2002. Mutations in the dopamine β-hydroxylase gene associate with human norepinephrine deficiency. Am J Med Genet 108:140-147.
5. Man in't Veld AJ, Boomsma F, Moleman P, Schalekamp MADH. 1987. Congenital dopamine-β-hydroxylase deficiency: A novel orthostatic syndrome. Lancet 1:183-187.
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7. Robertson D, Haile V, Perry SE, Robertson RM, Phillips JA, Biaggioni I. 1991. Dopamine beta-hydroxylase deficiency: A genetic disorder of cardiovascular regulation. Hypertension 18:1-8.
8. Shannon JR, Flattem NL, Jordan J, Jacob G, Black BK, Biaggioni I, Blakely RD, Robertson D. 2000. Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency. N Engl J Med 342:541-549.
9. Zabetian CP, Anderson GM, Buxbaum SG, Elston RC, Ichinose H, Nagatsu T, Kim KS, Kim CH, Malison RT, Gelernter J, Cubells JF. 2001. A quantitative-trait analysis of human plasma dopamine beta-hydroxylase activity: Evidence for a major functional polymorphism at the DBH locus. Am J Hum Genet 68:515-522.
10. Zabetian CP, Romero R, Robertson D, Sharma S, Padbury JF, Kuivaniemi H, Kim KS, Kim CH, Kohnke MD, Kranzler HR, Gelernter J, Cubells JF. A revised allele frequency estimate of the DBH deficiency mutation IVS1 + 2T→C in African and European-Americans. Am J Med Genet (in press).