A 14-year-old boy had exercise intolerance, weakness, ataxia, and lactic acidosis. Because his muscle biopsy showed a mosaic pattern of fibers staining intensely with the succinate dehydrogenase reaction but not at all with the cytochrome c oxidase reaction, we sequenced his mitochondrial DNA and found a novel mutation (C14680A) in the gene for tRNAGlu. The mutation was present in accessible tissues from the asymptomatic mother but not from a brother with Asperger syndrome. These data expand the clinical heterogeneity of mutations in this mitochondrial gene.
DiMauro S., Davidzon G.Mitochondrial DNA and disease. Ann Med.2005 ;37:222-232.
2.
Schon EAAppendix. In: DiMauro S, Hirano M, Schon EA, eds. Mitochondrial Medicine. London: Taylor & Francis; 2006: 329-335.
3.
Tanji K., Bonilla E.Optical imaging techniques (histochemical, immunohistochemical, and in situ hybridization staining methods) to visualize mitochondria. Methods Cell Biol.2001;65:311-332.
4.
DiMauro S., Servidei S., Zeviani M., et al. Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol.1987;22:498-506.
5.
Shanske S., Pancrudo J., Kaufmann P., et al. Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis. Am J Med Genet.2004;130A:134-137.
6.
Hao H., Bonilla E., Manfredi G., et al. Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus. Am J Hum Genet.1995;56:1017-1025.
7.
Hanna MG, Nelson IP, Sweeney MG, et al. Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation. Am J Hum Genet.1995 ;56:1026-1033.
8.
Damore ME, Speiser PW, Slonim AE, et al. Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: patient report and literature review. J Pediatr Endocrinol Metab.1999;12:207-213.
9.
McFarland R. , Schaefer AM, Gardner A., et al. Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation. Ann Neurol.2004;55:478-484.
10.
Mancuso M., Ferraris S., Nishigaki Y., et al. Congenital or late-onset myopathy with the T14709C mtDNA mutation . J Neurol Sci.2005;228:93-97.
11.
Vilarinho L., Barbot C., Pereira C., et al. Identification of a Novel mtDNA Mutation Associated With Leukodystrophy and Mitochondrial Myopathy. Proceedings, 5th European Meeting on Mitochondrial Pathology, Venice, Italy. 2001:297.
12.
Bruno C., Sacco O., Santorelli FM, et al. Mitochondrial myopathy and respiratory failure associated with a new mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene. J Child Neurol.2003;18:300-303.
13.
Anitori R., Manning K., Quan F., et al. Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes. Mol Genet Metab. 2005;84:176-188.
14.
Pons R., Andreu AL, Checcarelli N., et al. Mitochondrial DNA abnormalities and autistic spectrum disorders . J Pediatr.2004; 144:81-85.
