Unitat de Patologia Mitocondrial i Neuromuscular, Institut de Recerca Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.
Mitochondrion. 2011 Jan;11(1):228-33. doi: 10.1016/j.mito.2010.08.008. Epub 2010 Sep 8.
We report a heteroplasmic novel mutation m.5636T>C in the mt-tRNA(Ala) in a patient with bilateral ptosis and ophthalmoparesis in whom a muscle biopsy showed cytochrome c oxdidase (COX) negative and ragged red fibers. Using laser capture microdissection we have isolated COX negative fibers and COX positive fibers from the muscle of the patient and determined that the mutation load was clearly increased in COX negative muscle fibers. Additionally, the mutated m.5636T nucleotide is conserved in all the mammal and non-mammal species analyzed and might be structurally relevant as it is located in a position involved in the formation of tertiary structure of canonical mitochondrial tRNAs.
我们报道了一名双侧眼睑下垂和眼肌瘫痪患者的线粒体 tRNA(Ala) 中的异质新突变 m.5636T>C，肌肉活检显示细胞色素 c 氧化酶（COX）阴性和杂乱红纤维。使用激光捕获显微切割，我们从患者的肌肉中分离出 COX 阴性纤维和 COX 阳性纤维，并确定突变负荷在 COX 阴性肌肉纤维中明显增加。此外，分析的所有哺乳动物和非哺乳动物物种中的突变 m.5636T 核苷酸都保守，并且可能具有结构相关性，因为它位于涉及经典线粒体 tRNA 三级结构形成的位置。
