Abstract
A rare point mutation at nucleotide position 8356 in the transfer RNA gene in mitochondrial DNA was found in a Japanese family. Our proband had migraine and dementia associated with lactic acidosis in addition to myoclonic epilepsy with ataxia and ragged-red fibres in a muscle biopsy specimen consistent with the clinical characteristics of myoclonic epilepsy with ragged-red fibres (MERRF). His mother, who had the same point mutation, also had migraine but without myoclonus or ataxia. His aunt, who had the same point mutation and migraine, developed diabetes mellitus, encephalomyopathy and several stroke-like episodes associated with lactic acidosis (MELAS). This is the third family with the rare mutation seen in American and Italian families. The mutation may not be specific to Caucasians, and is probably closely related to the MERRF/MELAS overlap syndrome.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M, Simonetti S, Angelini C, Donati MA, Garcia C, Martinuzzi A, Mosewich R, Servidei S, Zammarchi E, Bonilla E, DeVivo DC, Rowland LP, Schon EA, DiMauro S (1992) MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol 31: 391–398
DiMauro S, Bonilla E, Zeviani M, Nakagawa M, De Vivo DC (1985) Mitochondrial myopathies. Ann Neurol 17: 521–538
Fukuhara N, Tokiguchi S, Shirakawa K, Tsubaki T (1980) Myolonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): disease entity or a syndrome? J Neurol Sci 47: 117–133
Goto Y, Horai S, Matsuoka T, Koga Y, Nihei K, Kobayashi M, Nonaka I (1992) Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation. Neurology 42: 545–550
Hasegawa H, Matsuoka T, Goto Y, Nonaka I (1991) Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Ann Neurol 29: 601–605
Heyck H (1969) Pathogenesis of migraine. Res Clin Stud Headache 2: 1–28
Koga Y, Nonaka I, Sunohara N, Yamanaka R, Kumagai K (1988) Variability in the activity of respiratory chain enzymes in mitochondrial myopathies. Acta Neuropathol 76: 135–141
Lombes A, Mendell JR, Nakase H, Nakase H, Barohn, RJ, Bonilla E, Zeviani, M, Yates AJ, Omerza J, Gales TL, Nakahara K, Rizzuto R, Engel WK, DiMauro S (1989) Myoclonic epilepsy and ragged-red fibers with cytochrome c oxidase deficiency: neuropathology, biochemistry and molecular genetics. Ann Neurol 26: 20–33
Rosing HS, Hopkins LC, Wallace DC, Epstein CM, Weidenheim K (1985) Maternally inherited mitochondrial myopathy and myoclonic epilepsy. Ann Neurol 17: 228–237
Sano M, Ishii K, Momose Y, Uchigata M, Senda M (1995) Cerebral metabolism of oxygen and glucose in a patient with MELAS syndrome. Acta Neurol Scand 92:497–502
Shoffner JM, Lott MT, Lezza AMS, Seibel P, Ballinger SW, Wallace DC (1990) Myoclonic epilepsy and raggedred fibers (MERRF) is associated with a mitochondrial DNA tRNALys mutation. Cell 61: 931–937
Silvestri G, Moraes CT, Shanske S, Oh SJ, DiMauro S (1992) A new mtDNA mutation in the tRNALys gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 51: 1213–1217
Yoneda M, Tanno Y, Horai S, Ozawa T, Miyatake T, Tsuji S (1990) A common mitochondrial DNA mutation in the tRNALys of patients with myoclonus epilepsy associated with ragged-red fibers. Biochem Int 21: 789–796
Zeviani M, Amati P, Bresolin N, Antozzi C, Piccolo G, Toscano A, DiDonato S (1991) Rapid detection of the A-G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 48: 203–211
Zeviani M, Muntoni F, Savarese N Serra G, Tiranti V, Carrara F, Mariotti C, DiDonato S (1993) A MERRF/ MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNALys gene. Eur J Hum Genet 1: 80–87
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Sano, M., Ozawa, M., Shiota, S. et al. The T-C(8356) mitochondrial DNA mutation in a Japanese family. J Neurol 243, 441–444 (1996). https://doi.org/10.1007/BF00900496
Received:
Revised:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00900496