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.

Mutational analysis of COQ2 in patients with MSA in Italy / D. Ronchi, E. Di Biase, G. Franco, V. Melzi, F. Del Sorbo, A. Elia, C. Barzaghi, B. Garavaglia, C. Bergamini, R. Fato, G. Mora, R. Del Bo, F. Fortunato, L. Borellini, I. Trezzi, G. Monzio Compagnoni, E. Monfrini, E. Frattini, S. Bonato, F. Cogiamanian, G. Ardolino, A. Priori, N. Bresolin, S. Corti, G.P. Comi, A. Di Fonzo. - In: NEUROBIOLOGY OF AGING. - ISSN 0197-4580. - 45(2016 Sep), pp. 213.e1-213.e2. [10.1016/j.neurobiolaging.2016.05.022]

Mutational analysis of COQ2 in patients with MSA in Italy

D. Ronchi;G. Franco;R. Del Bo;F. Fortunato;L. Borellini;I. Trezzi;G. Monzio Compagnoni;E. Monfrini;E. Frattini;S. Bonato;A. Priori;N. Bresolin;S. Corti;G.P. Comi;
2016-09

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.
COQ2; CoQ10; MSA
Settore MED/26 - Neurologia
7-giu-2016
NEUROBIOLOGY OF AGING
Article (author)
File in questo prodotto:
File Dimensione Formato  
Di Fonzo 2016.pdf

non disponibili

Tipologia: Post-print, accepted manuscript ecc. (versione accettata dall'editore)
Dimensione 264.82 kB
Formato Adobe PDF
264.82 kB Adobe PDF   Visualizza/Apri   Richiedi una copia
1-s2.0-S0197458016300914-main.pdf

non disponibili

Tipologia: Publisher's version/PDF
Dimensione 159.52 kB
Formato Adobe PDF
159.52 kB Adobe PDF   Visualizza/Apri   Richiedi una copia
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/420738
Citazioni
  • ???jsp.display-item.citation.pmc??? 8
  • Scopus 16
  • ???jsp.display-item.citation.isi??? 18
social impact