The V81M variant of tyrosine hydroxylase is associated with more severe freezing of gait in Parkinson's disease.
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ABSTRACT:
SUBMITTER: Tekin I
PROVIDER: S-EPMC4770791 | biostudies-literature | 2016 Feb
REPOSITORIES: biostudies-literature
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The V81M variant of tyrosine hydroxylase is associated with more severe freezing of gait in Parkinson's disease.
Tekin Izel I Carkaci-Salli Nurgul N Lewis Mechelle M MM Mailman Richard B RB Huang Xuemei X Vrana Kent E KE
Parkinsonism & related disorders 20151223
<h4>Introduction</h4>Many of the symptoms and signs of Parkinson's disease (PD) arise from the death of midbrain dopamine neurons that utilize tyrosine hydroxylase (TH) as the rate-limiting enzyme in catecholamine biosynthesis.<h4>Methods</h4>We investigated whether the presence of a common TH polymorphism affects the clinical outcomes in 101 PD subjects. We further examined the effect of this polymorphism on the purified recombinant enzyme.<h4>Results</h4>PD subjects homozygous for the common V ...[more]
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