Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy.

Alkyl and Aryl Transferases / genetics Female Humans Italy Male Middle Aged Multiple System Atrophy / genetics Mutation White People / genetics
COQ2 MSA Multiple system atrophy

Journal

Gene
ISSN: 1879-0038
Titre abrégé: Gene
Pays: Netherlands
ID NLM: 7706761

Informations de publication

Date de publication:
20 Oct 2019
Historique:
received: 14 05 2019
revised: 02 08 2019
accepted: 05 08 2019
pubmed: 10 8 2019
medline: 4 9 2019
entrez: 10 8 2019
Statut: ppublish

Résumé

COQ2 encodes para-hydroxybenzoate-polyprenyl transferase and, recently, mutations in this gene have been associated with the increase of the risk of multiple system atrophy (MSA) in Japanese cases. Subsequently, studies in Asian patients confirmed the role of COQ2 in the development of MSA, while other analysis failed to replicate these results in Caucasian population. We performed genetics screening of COQ2 in 100 MSA Italian patients. We did not find any pathogenic mutations; our results suggest that COQ2 is not a genetic risk factor for MSA in Italian population.

Identifiants

DOI: 10.1016/j.gene.2019.144037 PMID: 31398377
pubmed: 31398377
pii: S0378-1119(19)30696-1
doi: 10.1016/j.gene.2019.144037
pii:
doi:

Substances chimiques

Alkyl and Aryl Transferases EC 2.5.-
4-hydroxybenzoate polyprenyltransferase EC 2.5.1.-

Types de publication

Letter

Langues

eng

Sous-ensembles de citation

IM

Pagination

144037

Informations de copyright

Copyright © 2019 Elsevier B.V. All rights reserved.

Auteurs

Radha Procopio (R)

Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy; Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.

Monica Gagliardi (M)

Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy. Electronic address: monicg_2002@yahoo.it.

Laura Brighina (L)

Department of Neurology, Milan Center for Neuroscience, San Gerardo Hospital, University of Milano-Bicocca, Monza, Italy.

Giuseppe Nicoletti (G)

Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.

Maurizio Morelli (M)

Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.

Carlo Ferrarese (C)

Department of Neurology, Milan Center for Neuroscience, San Gerardo Hospital, University of Milano-Bicocca, Monza, Italy.

Grazia Annesi (G)

Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.

Aldo Quattrone (A)

Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy; Neuroscience Research Center, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.

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Classifications MeSH

questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Transferases › Alkyl et aryl transferases › Genetic mutation analysis of the COQ2 gene in...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genetic mutation analysis of the COQ2 gene in...
questionsmedicales.fr › Régions géographiques › Europe › Italie › Genetic mutation analysis of the COQ2 gene in...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Genetic mutation analysis of the COQ2 gene in...
questionsmedicales.fr › Maladies du système nerveux › Maladies neurodégénératives › Atrophie multisystématisée › Genetic mutation analysis of the COQ2 gene in...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Genetic mutation analysis of the COQ2 gene in...
questionsmedicales.fr › Personnes › Blancs › Genetic mutation analysis of the COQ2 gene in...