Perrone Serafina, Lotti Federica, Geronzi Ursula, Guidoni Elisa, Longini Mariangela, Buonocore Giuseppe
Department of Molecular and Developmental Medicine, University of Siena, 53100 Siena, Italy.
Department of Molecular and Developmental Medicine, University of Siena, 53100 Siena, Italy; UOC Patologia Clinica, AOUS Siena, 53100 Siena, Italy.
Oxid Med Cell Longev. 2016;2016:4782426. doi: 10.1155/2016/4782426. Epub 2016 Apr 27.
Oxidative stress is a distinctive sign in several genetic disorders characterized by cancer predisposition, such as Ataxia-Telangiectasia, Fanconi Anemia, Down syndrome, progeroid syndromes, Beckwith-Wiedemann syndrome, and Costello syndrome. Recent literature unveiled new molecular mechanisms linking oxidative stress to the pathogenesis of these conditions, with particular regard to mitochondrial dysfunction. Since mitochondria are one of the major sites of ROS production as well as one of the major targets of their action, this dysfunction is thought to be the cause of the prooxidant status. Deeper insight of the pathogenesis of the syndromes raises the possibility to identify new possible therapeutic targets. In particular, the use of mitochondrial-targeted agents seems to be an appropriate clinical strategy in order to improve the quality of life and the life span of the patients.
氧化应激是几种以癌症易感性为特征的遗传性疾病的显著标志,如共济失调毛细血管扩张症、范可尼贫血、唐氏综合征、早衰综合征、贝克威思-维德曼综合征和科斯特洛综合征。最近的文献揭示了将氧化应激与这些疾病的发病机制联系起来的新分子机制,特别是与线粒体功能障碍有关。由于线粒体是活性氧产生的主要部位之一,也是其作用的主要靶点之一,这种功能障碍被认为是促氧化状态的原因。对这些综合征发病机制的更深入了解增加了识别新的可能治疗靶点的可能性。特别是,使用线粒体靶向药物似乎是一种合适的临床策略,以提高患者的生活质量和寿命。