Genetic analysis of CHCHD2 and CHCHD10 in Italian patients with Parkinson's disease

Elisa Rubino; Livia Brusa; Ming Zhang; Silvia Boschi; Flora Govone; Alessandro Vacca; Annalisa Gai; Lorenzo Pinessi; Leonardo Lopiano; Ekaterina Rogaeva; Innocenzo Rainero

doi:10.1016/j.neurobiolaging.2016.12.027

Genetic analysis of CHCHD2 and CHCHD10 in Italian patients with Parkinson's disease

Neurobiol Aging. 2017 May:53:193.e7-193.e8. doi: 10.1016/j.neurobiolaging.2016.12.027. Epub 2017 Jan 5.

Authors

Affiliations

¹ Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy. Electronic address: elisa.rubino@unito.it.
² UOC Neurologia S. Eugenio Hospital, Rome, Italy.
³ Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
⁴ Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.
⁵ Neurology 2, Department of Neuroscience and Mental Health, AOU Città della Salute e della Scienza di Torino, Torino, Italy.
⁶ 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.
⁷ 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.

PMID: 28108040
DOI: 10.1016/j.neurobiolaging.2016.12.027

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.

Keywords: CHCHD10; CHCHD2; Italian; Mitochondria-associated gene; Parkinson's disease.

MeSH terms

Aged
Cohort Studies
DNA-Binding Proteins
Female
Genetic Association Studies*
Genetic Predisposition to Disease / genetics*
Humans
Introns / genetics
Italy
Male
Middle Aged
Mitochondria / genetics
Mitochondrial Proteins / genetics*
Mutation
Parkinson Disease / genetics*
Transcription Factors / genetics*

Substances

CHCHD10 protein, human
CHCHD2 protein, human
DNA-Binding Proteins
Mitochondrial Proteins
Transcription Factors