title: Analysis of the Micro-RNA-133 and PITX3 genes in Parkinson's disease.
abstract: 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.
authors.affiliation: Genética Molecular, Hospital Universitario Central de Asturias, Oviedo, Spain.
authors.forename: Lorena
authors.initials: L
authors.lastname: de Mena
authors.forename: Eliecer
authors.initials: E
authors.lastname: Coto
authors.forename: Lucía F
authors.initials: LF
authors.lastname: Cardo
authors.forename: Marta
authors.initials: M
authors.lastname: Díaz
authors.forename: Marta
authors.initials: M
authors.lastname: Blázquez
authors.forename: René
authors.initials: R
authors.lastname: Ribacoba
authors.forename: Carlos
authors.initials: C
authors.lastname: Salvador
authors.forename: Pau
authors.initials: P
authors.lastname: Pastor
authors.forename: Lluis
authors.initials: L
authors.lastname: Samaranch
authors.forename: Germán
authors.initials: G
authors.lastname: Moris
authors.forename: Manuel
authors.initials: M
authors.lastname: Menéndez
authors.forename: Ana I
authors.initials: AI
authors.lastname: Corao
authors.forename: Victoria
authors.initials: V
authors.lastname: Alvarez
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D035683:MicroRNAs / Q000235:genetics*; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D011110:Polymorphism, Genetic; D013030:Spain; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism; D055815:Young Adult
chemical_list: D018398:Homeodomain Proteins; D035683:MicroRNAs; D014157:Transcription Factors; C433629:homeobox protein PITX3