A mitochondrial DNA tRNA(Val) point mutation associated with adult- onset Leigh syndrome

Neurology

Volumn 49, Issue 2, 1997, Pages 589-592

  Chalmers, R M ^a   Lamont, P J ^a   Nelson, I ^a   Ellison, D W ^b   Thomas, N H ^b   Harding, A E ^a   Hammans, S R ^c  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^c SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; SUCCINATE DEHYDROGENASE; VALINE TRANSFER RNA;

ADULT; ARTICLE; CLINICAL ARTICLE; ENZYME ACTIVITY; EXTRACHROMOSOMAL INHERITANCE; FEMALE; HUMAN; HUMAN TISSUE; LEIGH DISEASE; MALE; MUSCLE BIOPSY; NUCLEIC ACID BASE SUBSTITUTION; ONSET AGE; POINT MUTATION; PRIORITY JOURNAL; RNA GENE; SIBLING;

EID: 0030766076     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.49.2.589     Document Type: Article

References (21)

1. Montpetit VJA, Andermann F, Carpenter S, Fawcett JS, Zborowska-Sluis D, Giberson HR. Subacute necrotizing encephalomyelopathy. A review and a study of two families. Brain 1971;94:1-30.
2. Van Coster R, Lombes A, De Vivo DC, et al. Cytochrome c oxidase-associated Leigh syndrome: phenotypic features and pathogenetic speculations. J Neurol Sci 1991;104:97-111.
3. Kalimo H, Lundberg PO, Olsson Y. Familial subacute necrotizing encephalomyelopathy of the adult form (adult Leigh syndrome). Ann Neurol 1979;6:200-206.
4. Davis PC, Hoffman JC, Braun IF, Ahmann P, Krawiecki N. MR of Leigh's disease (subacute necrotizing encephalomyelopathy). AJNR Am J Neuroradiol 1987;8:71-75.
5. Cavanagh JB, Harding BN. Pathogenic factors underlying the lesions in Leigh's disease. Tissue responses to cellular energy deprivation and their clinico-pathological consequences. Brain 1994;117:1357-1376.
6. De Vivo DC, Haymond MW, Obert KA, Nelson JS, Pagliara AS. Defective activation of the pyruvate dehydrogenase complex in subacute necrotizing encephalomyelopathy (Leigh disease). Ann Neurol 1979;6:483-494.
7. Tatuch Y, Christodoulou J, Feigenbaum A, et al. Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 1992;50:852-858.
8. de Vries DD, van Engelen BGM, Gabreëls FJM, Ruitenbeek W, van Oost BA. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. Ann Neurol 1993; 34:410-412.
9. De Meirleir L, Seneca S, Lissens W, et al. Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene [abstract]. Ann Neurol 1994;36:522.
10. Thyagarajan D, Shanske S, Vazquez-Memije M, DeVivo D, DiMauro S. A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. Ann Neurol 1995;38:468-472.
11. Sweeney MG, Hammans SR, Duchen LW, et al. Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy. J Neurol Sci 1994; 121:57-65.
12. Yamamoto M, Clemens PR, Engel AG. Mitochondrial DNA deletions in mitochondrial cytopathies: observations in 19 patients. Neurology 1991;41:1822-1828.
13. Holt IJ, Harding AE, Morgan Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988;331:717-719.
14. Hanna MG, Nelson I, 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.
15. Anderson S, Bankier AT, Barrell BG, et al. Sequence and organisation of the human mitochondrial genome. Nature 1981;290:457-465.
16. Holt IJ, Harding AE, Petty RKH, Morgan Hughes JA. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990;46:428-433.
17. Santorelli FM, Shanske S, Macaya A, DeVivo DC, DiMauro S. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol 1993;34:827-834.
18. Sprinzl M, Hartmann T, Weber J, Blank J, Zeidler R. Compilation of tRNA sequences and sequences of tRNA genes. Nucleic Acids Res 1989;17(suppl):r1-r172.
19. Taylor RW, Chinnery PF, Haldane F, et al. MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA. Ann Neurol 1996;40:459-462.
20. Hess JF, Parisi MA, Bennett JL, Clayton DA. Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1991;351:236-239.
21. Leu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Mol Cell Biol 1992;12:480-490.