Mitochondrial DNA haplogroups may influence Fabry disease phenotype.
Neurosci Lett
; 629: 58-61, 2016 08 26.
Article
em En
| MEDLINE
| ID: mdl-27365132
ABSTRACT
While the genetic origin of Fabry disease (FD) is well known, it is still unclear why the disease presents a wide heterogeneity of clinical presentation and progression, even within the same family. Emerging observations reveal that mitochondrial impairment and oxidative stress may be implicated in the pathogenesis of FD. To investigate if specific genetic polymorphisms within the mitochondrial genome (mtDNA) could act as susceptibility factors and contribute to the clinical expression of FD, we have genotyped European mtDNA haplogroups in 77 Italian FD patients and 151 healthy controls. Haplogroups H and I, and haplogroup cluster HV were significantly more frequent in patients than controls. However, no correlation with gender, age of onset, organ involvement was observed. Our study seems to provide some evidence of a contribution of mitochondrial variation in FD pathogenesis, at least in Italy.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
DNA Mitocondrial
/
Doença de Fabry
Limite:
Adult
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Female
/
Humans
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Male
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Middle aged
País/Região como assunto:
Europa
Idioma:
En
Revista:
Neurosci Lett
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Itália