MERRF/MELAS overlap syndrome: A double pathogenic mutation in mitochondrial tRNA genes

Journal of Medical Genetics

Volumn 47, Issue 10, 2010, Pages 659-664

  Nakamura, M ^a   Yabe, Ichiro ^a   Sudo, A ^a   Hosoki, K ^a   Yaguchi, H ^a   Saitoh, S ^a   Sasaki, H ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CAMOSTAT MESILATE; CARBAMAZEPINE; MITOCHONDRIAL RNA; PHENYTOIN; TOPIRAMATE; TRANSFER RNA; ULINASTATIN; URSODEOXYCHOLIC ACID; VALPROIC ACID; ZONISAMIDE;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DNA SEQUENCE; EPILEPTIC STATE; FAMILY; FEMALE; GENE MUTATION; HUMAN; HYPOTHESIS; MERRF SYNDROME; MYOCLONUS EPILEPSY; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; SEIZURE;

ADOLESCENT; ADULT; BRAIN; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MELAS SYNDROME; MERRF SYNDROME; MITOCHONDRIAL ENCEPHALOMYOPATHIES; PEDIGREE; PHENOTYPE; POINT MUTATION; QUADRICEPS MUSCLE; RNA, TRANSFER, LEU; RNA, TRANSFER, LYS; YOUNG ADULT;

EID: 77957794743     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.072058     Document Type: Article

References (29)

1. Fukuhara N, Tokiguchi S, Shirakawa K, Tsubaki T. Myoclonus epilepsy associated with ragged-red fibers (mitochondrial abnormalities): disease entity or a syndrome? J Neurol Sci 1980;47:117-33.
2. DiMauro S, Moraes CT. Mitochondrial encephalomyopathies. Arch Neurol 1993;50:1197-208.
3. Lys mutation. Cell 1990;61:931-7.
4. LYS gene associated with myoclonus epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 1992;51:1213-7.
5. (8356) mitochondrial DNA mutation in a Japanese family. J Neurol 1996;243:441-4.
6. Lys gene. Eur J Hum Genet 1993;1:80-7.
7. Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes: a distinctive clinical syndrome. Ann Neurol 1984;16:481-8.
8. LEU (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990;348:651-3.
9. Goto Y. Clinical features of MELAS and mitochondrial DNA mutations. Muscle Nerve 1995;3:107-12.
10. Folgero T, Torbergsen T, Oian P. The 3243 MELAS mutation in a pedigree with MERRF. Eur Neurol 1995;35:168-71.
11. Fabrizi GM, Cardaioli E, Grieco GS, Cavallaro T, Malandrini A, Manneschi L, Dotti MT, Federico A, Guazzi G. The A to G transition at nt 3243 of the mitochondrial (RNALeu(UUR)) may cause a MERRF syndrome. J Neurol Neurosurg Psychiatr 1996;61:47-51.
12. LEU (UUR) mutation of mitochondrial DNA. Muscle Nerve 1996;19:187-90.
13. Mongini T, Doriguzzi C, Chiadò-Piat L, Silvestri G, Servidei S, Palmucci L. MERRF/MELAS overlap syndrome in a family with A3243G mtDNA mutation. Clin Neuropathol 2002;21:72-6. (Pubitemid 34279737)
14. Verma A, Moraes CT, Shebert RT, Bradley WG. A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation. Neurology 1996;46:1334-6.
15. Riordan-Eva P, Sanders MD, Govan GG, Sweeney MG, Da Costa J, Harding AE. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 1995;118:319-37.
16. Bidooki SK, Johnson MA, Chrzanowska-Lightowlers Z, Bindoff LA, Lightowlers RN. Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes. Am J Hum Genet 1997;60:1430-8.
17. Lys gene associated with myoclonus epilepsy with ragged-red fibers. Neurology 1999;52:377-82.
18. Brown MD, Allen JC, Van Stavern GP, Newman NJ, Wallace DC. Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations. Am J Med Genet 2001;104:331-8.
19. Mimaki M, Ikota A, Sato A, Komaki H, Akanuma J, Nonaka I, Goto Y. A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy. J Hum Genet 2003;48:47-50.
20. Tonska K, Kurzawa M, Ambroziak AM, Korwin-Rujna M, Szaflik JP, Grabowska E, Szaflik J, Bartnik E. A family with 3460G>A and 11778G>A mutations and haplogroup analysis of Polish Leber hereditary optic neuropathy patients. Mitochondrion 2008;8:383-8.
21. Dai D, Lu Y, Chen Z, Wei Q, Cao X, Xing G. Co-segregation of the T1095C with the A1555G mutation of the mitochondrial 12S rRNA gene in a patient with non-syndromic hearing loss. Biochem Biophys Res Commun 2008;377:1152-5.
22. Zhang AM, Jia X, Yao YG, Zhang Q. Co-occurrence of A1555G and G11778A in a Chinese family with high penetrance of Leber's hereditary optic neuropathy. Biochem Biophys Res Commun 2008;376:221-4.
23. Goto Y, Horai S, Matsuoka T, Koga Y, Nihei K, Kobayashi M, Nonaka I. Mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation. Neurology 1992;42:545-50.
24. Hasegawa H, Matsuoka T, Goto Y, Nonaka I. Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Ann Neurol 1991;29:601-5.
25. Weber K, Wilson JN, Taylor L, Brierley E, Johnson MA, Turnbull DM, Bindoff LA. A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle. Am J Hum Genet 1997;60:373-80.
26. McDonnell MT, Schaefer AM, Blakely EL, McFarland R, Chinnery PF, Turnbull DM, Taylor RW. Noninvasive diagnosis of the 3243A>G mitochondrial DNA mutation using urinary epithelial cells. Eur J Hum Genet 2004;12:778-81.
27. Shanke S, Pancrudo J, Kaufmann P, Engelstad K, Jhung S, Lu J, Naini A, DiMauro S, De Vivo DC. Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis. Am J Med Genet A 2004;130:134-7.
28. Whittaker RG, Blackwood JK, Alston CL, Blakely EL, Elson JL, McFarland R, Chinnery PF, Turnbull DM, Taylor RW. Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation. Neurology 2009;72:568-9.
29. Ohno K, Yamamoto M, Engel AG, Harper CM, Roberts LR, Tan GH, Fatourechi V. MELAS and Kerns-Sayre-type communication with myopathy and autoimmune polyendocrinopathy. Ann Neurol 1996;39:761-6.