Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease.

CNS & Neurological Disorders Drug Targets
Guney BademciLiyong Wang

Abstract

The tyrosine hydroxylase (TH) gene encodes a monoxygenase that catalyzes the rate limiting step in dopamine biosynthesis. A hallmark of Parkinson's disease (PD) is the loss of dopaminergic neurons in the substantia nigra. Consistent with the essential role of TH in dopamine homeostasis, missense mutations in both alleles of TH have been associated with severe Parkinsonism-related phenotypes including infantile Parkinsonism. It has been speculated for a long time that genetic variants in the TH gene modify adult-onset PD susceptibility but the answer has not been clear. Genetic variants (both sequence variations and structural variations) can be classified into three categories based on their relative frequency in population: common variants (polymorphisms), rare variants and mutations. Each of these factors has a different mode in influencing the genetic risk and often requires different approaches to decipher their contributions to the disease. In the past few years, the revolutionary advances in genomic technology have allowed systematic evaluations of these genetic variants in PD, such as the genome-wide association study (GWAS, to survey common variants), copy number variation analysis (to detect structural variations), and...Continue Reading

Citations

May 29, 2014·Journal of Neural Transmission·Izel TekinKent E Vrana
Dec 20, 2014·European Journal of Oncology Nursing : the Official Journal of European Oncology Nursing Society·John D MerrimanChristine Miaskowski
Nov 30, 2016·Human Genetics·Valentina La CognataSebastiano Cavallaro
Jul 12, 2018·Journal of Neural Transmission·Toshiharu NagatsuKazuto Kobayashi
Feb 5, 2019·Journal of Neurochemistry·Peter R Dunkley, Phillip W Dickson
Apr 6, 2016·The Journal of Biological Chemistry·Arathy S KumarSuresh K Rayala

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