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Mitochondrial DNA haplogroups may influence Fabry disease phenotype
- Source :
- Neuroscience letters. 629
- Publication Year :
- 2016
-
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.
- Subjects :
- 0301 basic medicine
Adult
Male
Mitochondrial DNA
Genotype
Disease
Biology
DNA, Mitochondrial
Haplogroup
Pathogenesis
03 medical and health sciences
0302 clinical medicine
medicine
oxidative stress
Humans
Genetics
Fabry
haplogroups
mitochondrial genotype
mtDNA
Polymorphism, Genetic
General Neuroscience
Haplogroups
Mitochondrial genotype
Oxidative stress
Middle Aged
medicine.disease
Phenotype
Fabry disease
030104 developmental biology
Haplotypes
Italy
Fabry Disease
Female
Age of onset
030217 neurology & neurosurgery
Human mitochondrial DNA haplogroup
Subjects
Details
- ISSN :
- 18727972
- Volume :
- 629
- Database :
- OpenAIRE
- Journal :
- Neuroscience letters
- Accession number :
- edsair.doi.dedup.....d23e300d49737806057fb7ef5abd662d