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Mutational analysis of COQ2 in patients with MSA in Italy.

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.

Neurobiol Aging ; 45: 213.e1-213.e2, 2016 09.

Artículo en Inglés | MEDLINE | ID: mdl-27394078

RESUMEN

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.

Asunto(s)

Transferasas Alquil y Aril/genética , Análisis Mutacional de ADN , Estudios de Asociación Genética , Atrofia de Múltiples Sistemas/genética , Mutación/genética , Adulto , Anciano , Estudios de Cohortes , Femenino , Homocigoto , Humanos , Italia , Masculino , Persona de Mediana Edad

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