1. Mitochondrial DNA haplogroups may influence Fabry disease phenotype
- Author
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Ubaldo Bonuccelli, Gabriele Siciliano, Anna Zampetti, W Boadu, Lucia Chico, Daniele Orsucci, Mauro Scarpelli, Maria Gnarra, GianPietro Sechi, Claudio Feliciani, Alessandro Salviati, Costanza Simoncini, Laura Fancellu, Michelangelo Mancuso, Daniela Concolino, and Simona Sestito
- 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 - 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.
- Published
- 2016