title: Mitochondrial DNA haplogroups may influence Fabry disease phenotype.
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.
authors.affiliation: Experimental and Clinical Medicine Department, Neurological Clinic, University of Pisa, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Simoncini
authors.affiliation: Experimental and Clinical Medicine Department, Neurological Clinic, University of Pisa, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Chico
authors.affiliation: Department of Pediatrics University "Magna Graecia" of Catanzaro, Catanzaro, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Concolino
authors.affiliation: Department of Pediatrics University "Magna Graecia" of Catanzaro, Catanzaro, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Sestito
authors.affiliation: Department of Clinical and Experimental Medicine, University of Sassari, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Fancellu
authors.affiliation: Department of Clinical and Experimental Medicine, University of Sassari, Italy.
authors.forename: W
authors.initials: W
authors.lastname: Boadu
authors.affiliation: Department of Clinical and Experimental Medicine, University of Sassari, Italy.
authors.forename: G P
authors.initials: GP
authors.lastname: Sechi
authors.affiliation: Section of Dermatology, Department of Clinical and Experimental Medicine, Parma Medical School, Parma, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Feliciani
authors.affiliation: Section of Dermatology, Department of Clinical and Experimental Medicine, Parma Medical School, Parma, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Gnarra
authors.affiliation: Rare diseases and Periodic fevers Research Center, Policlinico A. Gemelli, Rome, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Zampetti
authors.affiliation: Department of Neurological and Movement Sciences, University of Verona, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Salviati
authors.affiliation: Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Scarpelli
authors.affiliation: Experimental and Clinical Medicine Department, Neurological Clinic, University of Pisa, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Orsucci
authors.affiliation: Experimental and Clinical Medicine Department, Neurological Clinic, University of Pisa, Italy.
authors.forename: U
authors.initials: U
authors.lastname: Bonuccelli
authors.affiliation: Experimental and Clinical Medicine Department, Neurological Clinic, University of Pisa, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Siciliano
authors.affiliation: Experimental and Clinical Medicine Department, Neurological Clinic, University of Pisa, Italy. Electronic address: mancusomichelangelo@gmail.com.
authors.forename: M
authors.initials: M
authors.lastname: Mancuso
mesh_terms: D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics*; D000795:Fabry Disease / Q000235:genetics*; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011110:Polymorphism, Genetic
chemical_list: D004272:DNA, Mitochondrial
keywords: Fabry; Haplogroups; Mitochondrial genotype; Oxidative stress; mtDNA