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Mutational Analysis of COQ2 in Patients with MSA in Italy

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

Neurobiology of aging（2016）

Cited 26|Views81
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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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Key words
MSA,COQ2,CoQ10
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