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MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation |
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| Authors: | Connolly Barbara S Feigenbaum Annette S J Robinson Brian H Dipchand Anne I Simon David K Tarnopolsky Mark A |
| Institution: | a Department of Medicine, Hamilton Health Sciences, Hamilton, ON, Canada b Division of Clinical and Metabolic Genetics, The Hospital for Sick, Children and University of Toronto, Toronto, ON, Canada c Program for Genetics and Genome Biology in the SickKids Research Institute and Departments of Pediatrics and Biochemistry, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada d Division of Cardiology, The Hospital for Sick, Children and University of Toronto, Toronto, ON, Canada e Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, USA f Department of Pediatrics (Neuromuscular and Neurometabolic Disorders), Hamilton Health Sciences, Hamilton, ON, Canada |
| Abstract: | 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. |
| Keywords: | MELAS syndrome Leucine transfer RNA Mitochondrial myopathy Ragged red fibres |
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