Analysis of the Micro-RNA-133 and PITX3 Genes in Parkinson's Disease

作者：de Mena Lorena; Coto Eliecer; Cardo Lucia F; Diaz Marta; Blazquez Marta; Ribacoba Rene; Salvado Carlos; Pastor Pau; Samaranch LLuis; Moris German; Menendez Manuel; Corao Ana I; Alvarez Victoria^*

来源：American Journal of Medical Genetics Part B-Neuropsychiatric Genetics, 2010, 153B(6): 1234-1239.

DOI：10.1002/ajmg.b.31086

• Parkinson's disease
• micro RNAs
• DNA polymorphisms
• genetic risk

MicroRNAs are small RNA sequences that negatively regulate gene expression by binding to the 3 ' untranslated regions of mRNAs. MiR-133b has been implicated in Parkinson's disease (PD) by a mechanism that involves the regulation of the transcription factor PITX3. The variation in these genes could contribute to the risk of developing PD. We searched for DNA variants in miR-133 and PITX3 genes in PD patients and healthy controls from Spain. We found common DNA variants in the three miR-133 genes. Genotyping of a first set of patients (n = 777) and controls (n = 650) showed a higher frequency of homozygous for a miR-133b variant (-90 del A) in PD-patients (6/575; 1%) than in healthy controls (0/650) (P = 0.03). However, this association was not confirmed in a second set of patients (1/250; 0.4%) and controls (2/210; 1%). No common PITX3 variants were associated with PD, although a rare missense change (G32S) was found in only one patient and none of the controls. In conclusion, we report the variation in genes of a pathway that has been involved in dopaminergic neuron differentiation and survival. Our work suggests that miR-133 and PITX3 gene variants did not contribute to the risk for PD.

• 出版日期2010-9