Frequent sequence variant in the human tyrosine hydroxylase gene

  title={Frequent sequence variant in the human tyrosine hydroxylase gene},
  author={Barbara L{\"u}decke and Klaus Bartholom{\'e}},
  journal={Human Genetics},
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
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
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.
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
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
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
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)
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
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.
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
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.


Tyrosine hydroxylase gene not linked to manic-depression in seven of eight pedigrees.
A linkage analysis was carried out between this disease in 8 families and two RFLP probes that map to the TH gene region on the short arm of chromosome 11, and evidence of linkage was not found in 7 of 8 kindreds.
A single human gene encoding multiple tyrosine hydroxylases with different predicted functional characteristics
It is demonstrated that, in man, TH molecules are encoded by at least three distinct messenger RNAs, which could represent a novel means of regulating catecholamine levels in normal and pathological neurons.
Childhood basal ganglia disease with remarkable response to L-Dopa, "hereditary basal ganglia disease with marked diurnal fluctations
  • Therapie
  • 1971