Crimi Marco, Galbiati Sara, Moroni Isabella, Bordoni Andreina, Perini Maria Paola, Lamantea Eleonora, Sciacco Monica, Zeviani Massimo, Biunno Ida, Moggio Maurizio, Scarlato Guglielmo, Comi Giacomo Pietro
Dino Ferrari Center, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Ospedale Maggiore Policlinico, Italy.
Neurology. 2003 Jun 10;60(11):1857-61. doi: 10.1212/01.wnl.0000066048.72780.69.
A 13084 A->T missense mutation in the mitochondrial ND5 gene was identified in a 16-year-old boy affected with a progressive neurodegenerative disorder combining features of Leigh and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) syndromes. Muscle biopsy analysis revealed partial complex I deficiency. The mutation presented a variable degree of heteroplasmy in the patient's tissues. This finding underlines the contribution of mtDNA-encoded complex I subunits in the etiology of complex I deficiency associated with encephalopathy.
在一名16岁患有进行性神经退行性疾病的男孩中，发现线粒体ND5基因存在一个13084 A→T错义突变，该疾病兼具Leigh综合征和MELAS（线粒体脑肌病、乳酸酸中毒和卒中样发作）综合征的特征。肌肉活检分析显示复合体I部分缺陷。该突变在患者组织中呈现出不同程度的异质性。这一发现突出了线粒体DNA编码的复合体I亚基在与脑病相关的复合体I缺陷病因中的作用。
