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

被引：56

作者：

de Mena, Lorena ^{[6
]}

Coto, Eliecer ^{[1
,6
]}

Cardo, Lucia F. ^{[6
]}

Diaz, Marta ^{[6
]}

Blazquez, Marta ^{[2
,3
,4
]}

Ribacoba, Rene ^{[2
,3
,4
]}

Salvado, Carlos ^{[2
,3
,4
]}

Pastor, Pau ^{[5
]}

Samaranch, LLuis ^{[5
]}

Moris, German ^{[2
,3
,4
]}

Menendez, Manuel ^{[2
,3
,4
]}

Corao, Ana I. ^{[6
]}

Alvarez, Victoria ^{[6
]}

机构：

[1] Univ Oviedo, Dept Med, Oviedo, Spain

[2] Hosp Univ Cent Asturias, Asturias, Spain

[3] Hosp Univ San Agustin Aviles, Asturias, Spain

[4] Hosp Univ Alvarez Buylla Mieres, Asturias, Spain

[5] Univ Navarra, Sch Med, Univ Navarra Clin, Neurogenet Lab,Ctr Appl Med Res,Dept Neurol,Div N, E-31080 Pamplona, Spain

[6] Hosp Univ Cent Asturias, Oviedo, Spain

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS | 2010年 / 153B卷 / 06期

关键词：

Parkinson's disease; micro RNAs; DNA polymorphisms; genetic risk; ASSOCIATION; MUTATIONS; FGF20; MIRNAS; RISK; LOCI;

D O I：

10.1002/ajmg.b.31086

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

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. (C) 2010 Wiley-Liss, Inc.

引用

页码：1234 / 1239

页数：6

共 25 条

[1]

MicroRNAs: Genomics, biogenesis, mechanism, and function (Reprinted from Cell, vol 116, pg 281-297, 2004) [J].