由于TK2缺乏导致的线粒体肌病中的选择性肌纤维丢失和分子补偿。
Selective muscle fiber loss and molecular compensation in mitochondrial myopathy due to TK2 deficiency.
作者信息
Vilà Maya R, Villarroya Joan, García-Arumí Elena, Castellote Amparo, Meseguer Anna, Hirano Michio, Roig Manuel
机构信息
Centre d'Investigacions en Bioquímica i Biología Molecular, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
出版信息
J Neurol Sci. 2008 Apr 15;267(1-2):137-41. doi: 10.1016/j.jns.2007.10.019. Epub 2007 Nov 19.
Abstract
A 12-year-old patient with mitochondrial DNA (mtDNA) depletion syndrome due to TK2 gene mutations has been evaluated serially over the last 10 years. We observed progressive muscle atrophy with selective loss of type 2 muscle fibers and, despite severe depletion of mtDNA, normal activities of respiratory chain (RC) complexes and levels of COX II mitochondrial protein in the remaining muscle fibers. These results indicate that compensatory mechanisms account for the slow progression of the disease. Identification of factors that ameliorate mtDNA depletion may reveal new therapeutic targets for these devastating disorders.
摘要
一名因TK2基因突变导致线粒体DNA（mtDNA）耗竭综合征的12岁患者在过去10年中接受了系列评估。我们观察到进行性肌肉萎缩伴2型肌纤维选择性丢失，尽管mtDNA严重耗竭，但剩余肌纤维中呼吸链（RC）复合物的活性及COX II线粒体蛋白水平正常。这些结果表明，代偿机制是疾病进展缓慢的原因。确定改善mtDNA耗竭的因素可能会揭示出针对这些毁灭性疾病的新治疗靶点。
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