Mutational analysis of COQ2 in patients with MSA in Italy

Authors :: Chiara Barzaghi
Alessio Di Fonzo
Antonio E. Elia
Barbara Garavaglia
Sara Bonato
Giulia Franco
Gianluca Ardolino
Filippo Cogiamanian
Christian Bergamini
Valentina Melzi
Stefania Corti
Gabriele Mora
Alberto Priori
Francesco Fortunato
Ilaria Trezzi
Linda Borellini
Giacomo Monzio Compagnoni
Ernesto Di Biase
Dario Ronchi
Giacomo P. Comi
Emanuele Frattini
Roberto Del Bo
Edoardo Monfrini
Nereo Bresolin
Romana Fato
Francesca Del Sorbo
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
Publication Year :: 2016
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.

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