Keng W T, Pilz D T, Minns B, FitzPatrick D R
Clinical Genetics Department, Western General Hospital, Edinburgh, Scotland, UK.
Dev Med Child Neurol. 2003 Oct;45(10):704-8. doi: 10.1017/s0012162203001300.
The mitochondrial transfer ribonucleic acid for leucine is encoded by nucleotides 3230-3304. A-to-G transition at nucleotide 3243 can cause maternally transmitted diabetes mellitus-deafness syndrome, and MELAS syndrome. MELAS syndrome is a rare disorder of mitochondrial energy production, and is an acronym for myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Cortical malformations are heterogeneous and result from abnormal cell proliferation/apoptosis, migration, and/or differentiation of neuroepithelial cells. They are an important and relatively common cause of intractable epilepsy and neurodevelopmental disorders. The association between these A3243G mutations and cortical malformation has never before been reported. Here a 14-year-old female with A3243G mutation and polymicrogyria is described and possible aetiologies of this association are discussed.
亮氨酸的线粒体转运核糖核酸由核苷酸3230 - 3304编码。核苷酸3243处的A到G转换可导致母系遗传的糖尿病 - 耳聋综合征和线粒体脑肌病伴乳酸血症和卒中样发作综合征（MELAS综合征）。MELAS综合征是一种罕见的线粒体能量产生障碍疾病，是肌病、脑病、乳酸酸中毒和卒中样发作的首字母缩写。皮质畸形具有异质性，由神经上皮细胞异常的细胞增殖/凋亡、迁移和/或分化引起。它们是难治性癫痫和神经发育障碍的重要且相对常见的原因。这些A3243G突变与皮质畸形之间的关联此前从未有过报道。本文描述了一名患有A3243G突变和多小脑回的14岁女性，并讨论了这种关联可能的病因。
