title: Genetic analysis of CHCHD2 and CHCHD10 in Italian patients with Parkinson's disease.
abstract: In recent years, CHCHD2 and CHCHD10 mutations were reported to be associated with a broad spectrum of neurodegenerative diseases, including Parkinson's disease (PD), although with conflicting results in different populations. The present study aimed to evaluate CHCHD2 and CHCHD10 coding variants in Italian patients with PD. All the coding regions and flanking intronic splice sites of CHCHD2 and CHCHD10 were sequenced. None of our 119 PD cases carried CHCHD2 mutations, whereas 1 sporadic PD patient showed the Pro34Ser substitution in CHCHD10. Our data suggest that CHCHD2 and CHCDH10 mutations are not a relevant cause of PD in Italian population.
authors.affiliation: Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy. Electronic address: elisa.rubino@unito.it.
authors.forename: Elisa
authors.initials: E
authors.lastname: Rubino
authors.affiliation: UOC Neurologia S. Eugenio Hospital, Rome, Italy.
authors.forename: Livia
authors.initials: L
authors.lastname: Brusa
authors.affiliation: Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Ming
authors.initials: M
authors.lastname: Zhang
authors.affiliation: Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Boschi
authors.affiliation: Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.
authors.forename: Flora
authors.initials: F
authors.lastname: Govone
authors.affiliation: Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Vacca
authors.affiliation: Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.
authors.forename: Annalisa
authors.initials: A
authors.lastname: Gai
authors.affiliation: Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Pinessi
authors.affiliation: Neurology 2, Department of Neuroscience and Mental Health, AOU Città della Salute e della Scienza di Torino, Torino, Italy.
authors.forename: Leonardo
authors.initials: L
authors.lastname: Lopiano
authors.affiliation: Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada; Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto, Canada.
authors.forename: Ekaterina
authors.initials: E
authors.lastname: Rogaeva
authors.affiliation: Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy; Neurology 1, Department of Neuroscience and Mental Health, AOU Città della Salute e della Scienza di Torino, Torino, Italy.
authors.forename: Innocenzo
authors.initials: I
authors.lastname: Rainero
mesh_terms: D000368:Aged; D015331:Cohort Studies; D004268:DNA-Binding Proteins; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D007558:Italy; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C554426:CHCHD10 protein, human; C580880:CHCHD2 protein, human; D004268:DNA-Binding Proteins; D024101:Mitochondrial Proteins; D014157:Transcription Factors
keywords: CHCHD10; CHCHD2; Italian; Mitochondria-associated gene; Parkinson's disease