Department of Medicine, Hamilton Health Sciences, Hamilton, ON, Canada.
Biochem Biophys Res Commun. 2010 Nov 12;402(2):443-7. doi: 10.1016/j.bbrc.2010.10.060. Epub 2010 Oct 20.
The A to G transition mutation at position 3260 of the mitochondrial genome is usually associated with cardiomyopathy and myopathy. One Japanese kindred reported the phenotype of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome) in association with the A3260G mtDNA mutation. We describe the first Caucasian cases of MELAS syndrome associated with the A3260G mutation. Furthermore, this mutation was associated with exercise-induced rhabdomyolysis, hearing loss, seizures, cardiomyopathy, and autism in the large kindred. We conclude that the A3260G mtDNA mutation is associated with wide phenotypic heterogeneity with MELAS and other "classical" mitochondrial phenotypes being manifestations.
线粒体基因组 3260 位置的 A 到 G 转换突变通常与心肌病和肌病有关。一个日本家族报告了与 A3260G mtDNA 突变相关的线粒体脑肌病、乳酸酸中毒和卒中样发作（MELAS 综合征）的表型。我们描述了与 A3260G 突变相关的首例高加索人 MELAS 综合征病例。此外，该突变与大型家族的运动诱导的横纹肌溶解症、听力损失、癫痫、心肌病和自闭症有关。我们得出结论，A3260G mtDNA 突变与广泛的表型异质性相关，MELAS 和其他“经典”线粒体表型是其表现形式。
