| Literature DB >> 28108040 |
Elisa Rubino1, Livia Brusa2, Ming Zhang3, Silvia Boschi4, Flora Govone4, Alessandro Vacca4, Annalisa Gai4, Lorenzo Pinessi4, Leonardo Lopiano5, Ekaterina Rogaeva6, Innocenzo Rainero7.
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.Entities:
Keywords: CHCHD10; CHCHD2; Italian; Mitochondria-associated gene; Parkinson's disease
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Year: 2017 PMID： 28108040 DOI： 10.1016/j.neurobiolaging.2016.12.027
Source DB: PubMed Journal: Neurobiol Aging ISSN： 0197-4580 Impact factor: 4.673