Mutational analysis of COQ2 in patients with MSA in Italy
| Autor: | 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 |
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| Přispěvatelé: | 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 |
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
Adult
Male 0301 basic medicine Aging Cosegregation Sequence analysis DNA Mutational Analysis COQ2 Disease Cohort Studies 03 medical and health sciences 0302 clinical medicine Atrophy stomatognathic system parasitic diseases mental disorders MSA medicine Humans In patient Genetic Association Studies Aged Genetics Alkyl and Aryl Transferases Neuroscience (all) business.industry General Neuroscience Homozygote CoQ10 Middle Aged Multiple System Atrophy medicine.disease nervous system diseases Mutational analysis 030104 developmental biology Italy nervous system Mutation Etiology Female Neurology (clinical) Geriatrics and Gerontology business 030217 neurology & neurosurgery Developmental Biology |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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