Article
Mitochondrial DNA haplogroups may influence Fabry disease phenotype.
Neuroscience letters - 26 Aug 2016
Simoncini C, Chico L, Concolino D, Sestito S, Fancellu L, Boadu W, Sechi G P, Feliciani C, Gnarra M, Zampetti A, Salviati A, Scarpelli M, Orsucci D, Bonuccelli U, Siciliano G, Mancuso M
Abstract excerpt
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)...
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