Mutational analysis of COQ2 in patients with MSA in Italy

Abstract COQ2 mutations have been implicated in the etiology of multiple system atrophy (MSA) in Japan. However, several genetic screenings have not confirmed the role of its variants in the disease. We performed COQ2 sequence analysis in 87 probable MSA. A homozygous change p.A43G was found in an M...

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Bibliographic Details
Published in:Neurobiology of aging 2016-09, Vol.45, p.213.e1-213.e2
Main Authors: Ronchi, Dario, Di Biase, Ernesto, Franco, Giulia, Melzi, Valentina, Del Sorbo, Francesca, Elia, Antonio, Barzaghi, Chiara, Garavaglia, Barbara, Bergamini, Christian, Fato, Romana, Mora, Gabriele, Del Bo, Roberto, Fortunato, Francesco, Borellini, Linda, Trezzi, Ilaria, Compagnoni, Giacomo Monzio, Monfrini, Edoardo, Frattini, Emanuele, Bonato, Sara, Cogiamanian, Filippo, Ardolino, Gianluca, Priori, Alberto, Bresolin, Nereo, Corti, Stefania, Comi, Giacomo Pietro, Di Fonzo, Alessio
Format: Article
Language:English
Subjects:
Adult
Aged
Alkyl and Aryl Transferases - genetics
Cohort Studies
CoQ10
COQ2
DNA Mutational Analysis
Female
Genetic Association Studies
Homozygote
Humans
Internal Medicine
Italy
Male
Middle Aged
MSA
Multiple System Atrophy - genetics
Mutation - genetics
Neurology
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Summary:Abstract COQ2 mutations have been implicated in the etiology of multiple system atrophy (MSA) in Japan. However, several genetic screenings have not confirmed the role of its variants in the disease. We performed COQ2 sequence analysis in 87 probable MSA. A homozygous change p.A43G was found in an MSA-C patient. Cosegregation analysis and the evaluation of CoQ10 content in muscle and fibroblasts did not support the pathogenic role of this variant.
ISSN:0197-4580
1558-1497
DOI:10.1016/j.neurobiolaging.2016.05.022