Cockayne 综合征中的线粒体缺陷。
Mitochondrial deficiency in Cockayne syndrome.
机构信息
Laboratory of Molecular Gerontology, National Institute on Aging, NIH, USA.
出版信息
Mech Ageing Dev. 2013 May-Jun;134(5-6):275-83. doi: 10.1016/j.mad.2013.02.007. Epub 2013 Feb 19.
Abstract
Cockayne syndrome is a rare inherited disorder characterized by accelerated aging, cachectic dwarfism and many other features. Recent work has implicated mitochondrial dysfunction in the pathogenesis of this disease. This is particularly interesting since mitochondrial deficiencies are believed to be important in the aging process. In this review, we discuss recent findings of mitochondrial pathology in Cockayne syndrome and suggest possible mechanisms for the mitochondrial dysfunction.
摘要
科凯恩综合征是一种罕见的遗传性疾病，其特征为加速衰老、恶病质侏儒症和许多其他特征。最近的研究表明，线粒体功能障碍与这种疾病的发病机制有关。这一点特别有趣，因为线粒体缺陷被认为在衰老过程中很重要。在这篇综述中，我们讨论了科凯恩综合征中线粒体病理学的最新发现，并提出了线粒体功能障碍的可能机制。
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