Mitochondrial dysfunction in some oxidative stress-related genetic diseases: Ataxia-Telangiectasia, Down Syndrome, Fanconi Anaemia and Werner Syndrome

摘要: Oxidative stress is a phenotypic hallmark in several genetic disorders characterized by cancer predisposition and/or propensity to premature ageing. Here we review the published evidence for involvement of oxidative phenotypes Ataxia-Telangiectasia (A-T), Down Syndrome (DS), Fanconi Anaemia (FA), and Werner (WS), from viewpoint mitochondrial dysfunction. Mitochondria are recognized as both cell compartment where energetic metabolism occurs first most susceptible target reactive oxygen species (ROS) formation. Thus, critical evaluation basic mechanisms leading an vivo pro-oxidant state relies on elucidating features impairment each disorder. The different dysfunctions reported A-T, DS, FA reviewed. In case WS, clear-cut linking human WS phenotype abnormalities lacking so far literature. Nevertheless, relating normal ageing suggests that progeroid syndrome, likely feature abnormalities. Hence, ad hoc research focused nature dysfunction pathogenesis required. Based recognized, or reasonably suspected, role these disorders, studies chemoprevention with mitochondria-targeted supplements warranted.