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Journal of Neurology

, Volume 243, Issue 6, pp 441–444 | Cite as

The T-C(8356) mitochondrial DNA mutation in a Japanese family

  • Motoki Sano
  • Matsuko Ozawa
  • Satomi Shiota
  • Yuka Momose
  • Masanobu Uchigata
  • Yu-ichi Goto
Original Communication

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.

Key words

Myoclonic epilepsy with ragged-red fibres (MERRF) Migraine Transfer RNA gene Mitochondrial myopathy encephalopathy, lactic acidosis and stroke-like episodes (MELAS) MERRF/MELAS overlap syndrome 

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References

  1. 1.
    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: 391–398PubMedGoogle Scholar
  2. 2.
    DiMauro S, Bonilla E, Zeviani M, Nakagawa M, De Vivo DC (1985) Mitochondrial myopathies. Ann Neurol 17: 521–538PubMedGoogle Scholar
  3. 3.
    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: 117–133PubMedGoogle Scholar
  4. 4.
    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: 545–550PubMedGoogle Scholar
  5. 5.
    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: 601–605PubMedGoogle Scholar
  6. 6.
    Heyck H (1969) Pathogenesis of migraine. Res Clin Stud Headache 2: 1–28Google Scholar
  7. 7.
    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: 135–141PubMedGoogle Scholar
  8. 8.
    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: 20–33PubMedGoogle Scholar
  9. 9.
    Rosing HS, Hopkins LC, Wallace DC, Epstein CM, Weidenheim K (1985) Maternally inherited mitochondrial myopathy and myoclonic epilepsy. Ann Neurol 17: 228–237PubMedGoogle Scholar
  10. 10.
    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 92:497–502PubMedGoogle Scholar
  11. 11.
    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: 931–937PubMedGoogle Scholar
  12. 12.
    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: 1213–1217PubMedGoogle Scholar
  13. 13.
    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: 789–796PubMedGoogle Scholar
  14. 14.
    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: 203–211PubMedGoogle Scholar
  15. 15.
    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: 80–87PubMedGoogle Scholar

Copyright information

© Springer-Verlag 1996

Authors and Affiliations

  • Motoki Sano
    • 1
  • Matsuko Ozawa
    • 2
  • Satomi Shiota
    • 1
  • Yuka Momose
    • 1
  • Masanobu Uchigata
    • 1
  • Yu-ichi Goto
    • 2
  1. 1.Department of NeurologyShowa General HospitalKodaira, Tokyo 187Japan
  2. 2.Division of Ultrastructural ResearchNational Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)Tokyo 187Japan

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