Frequent sequence variant in the human tyrosine hydroxylase gene

@article{Ldecke2004FrequentSV,
  title={Frequent sequence variant in the human tyrosine hydroxylase gene},
  author={Barbara L{\"u}decke and Klaus Bartholom{\'e}},
  journal={Human Genetics},
  year={2004},
  volume={95},
  pages={716}
}
A polymorphism of human tyrosine hydroxylase changing the amino acid 81Val to 81Met is located in exon 2 of the human tyrosine hydroxylase gene. 
Influence of the tyrosine hydroxylase val81met polymorphism and catechol‐O‐methyltransferase val158met polymorphism on the antidepressant effect of milnacipran
TLDR
The purpose of the present study was to determine whether the tyrosine hydroxylase (TH) val81met and catechol‐O‐methyltransferase (COMT) val158met polymorphisms are associated with the antidepressant effect of milnacipran, a serotonin/noradrenaline reuptake inhibitor.
Tyrosine hydroxylase Val-81-Met polymorphism associated with early-onset alcoholism
TLDR
A role for tyrosine hydroxylase in early-onset alcoholism is suggested in patients with alcohol dependence and healthy volunteers as well as healthy volunteers.
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.
TLDR
A new missense mutation (1076G-->T, C359F) in the TH gene produces more severe clinical and biochemical manifestations than previously described in TH-deficient cases and is extended the clinical and the biochemical phenotype of genetically demonstrated TH deficiency.
No Evidence for Association between Tyrosine Hydroxylase Gene Val81Met Polymorphism and Susceptibility to Tardive Dyskinesia in Schizophrenia
TLDR
It is suggested that the Val81Met polymorphism of the TH gene does not contribute significantly to the risk for TD, and there was no significant difference in terms of total Abnormal Involuntary Movement Scale scores among the three genotype groups.
A New Tyrosine Hydroxylase Genotype Associated With Early-Onset Severe Encephalopathy
TLDR
A boy affected by an early-onset severe encephalopathy due to tyrosine hydroxylase deficiency is described, with high blood prolactin and low homovanillic acid in cerebrospinal fluid suggested the diagnosis.
Association analysis between gene variants of the tyrosine hydroxylase and the serotonin transporter in borderline personality disorder
  • A. Tadić, A. Elsässer, N. Dahmen
  • Biology
    The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry
  • 2010
TLDR
These data do not suggest independent or interactive effects of the TH Val81Met, the 5-HTTLPR/rs25531, or the STin2 polymorphisms in BPD.
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)
TLDR
Diagnostic biochemical findings are described in four cases of genetically confirmed tyrosine hydroxylase deficiency and strict adherence to a standardized lumbar puncture protocol and adequate reference values are essential for diagnosis of this "new" treatable neurometabolic disorder.
Functional Studies of Tyrosine Hydroxylase Missense Variants Reveal Distinct Patterns of Molecular Defects in Dopa-Responsive Dystonia
TLDR
Comparing the in vitro solubility, thermal stability, and kinetic properties of the TH variants to determine the cause(s) of their impaired enzyme activity, and found great heterogeneity in all these properties among the mutated forms.
Tyrosine hydroxylase and dopamine D4 receptor allelic distribution in Scandinavian chronic alcoholics.
TLDR
Results suggest that no major influence on alcoholism is exerted through genes associated with the DRD4 or TH allelic markers examined, and polymorphic genetic markers at the tyrosine hydroxylase (TH) and dopamine D4 receptor (DRD4) loci were examined in Scandinavian chronic alcoholics.
A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping
TLDR
Four different mutations in the GTP cyclohydrolase I gene were found in 6 out of 33 families with dopa-responsive dystonia, finding an exon 5 skipping that results in a reduction of enzyme activity in cultured fibroblasts to 4–17% compared to controls.
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