MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA M.3291T>C mutation

Muscle and Nerve

Volumn 44, Issue 3, 2011, Pages 448-451

  Emmanuele, Valentina ^a   Sotiriou, David S ^b   Sotiriou, Evangelia ^a   Tanji, Kurenai ^a   Dimauro, Salvatore ^a   Hirano, Michio ^a  

^a NewYork Presbyterian Hospital   (United States)

^b HARTFORD HOSPITAL   (United States)

Author keywords

Kearns sayre syndrome; Mitochondrial DNA; Myoclonus epilepsy; Point mutation; Ragged red fibers; tRNA Leu(UUR)

Indexed keywords

CREATINE KINASE; ETIRACETAM; LAMOTRIGINE; MITOCHONDRIAL DNA; TRANSFER RNA;

ADULT; AMBLYOPIA; ARTICLE; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; DIVERGENT STRABISMUS; DYSARTHRIA; ELECTROCARDIOGRAM; ELECTROENCEPHALOGRAM; GENE MUTATION; HEARING LOSS; HEART BLOCK; HEART RIGHT BUNDLE BRANCH BLOCK; HETEROPLASMY; HUMAN; HUMAN TISSUE; KEARNS SAYRE SYNDROME; LABORATORY TEST; MALE; MELAS SYNDROME; MERRF SYNDROME; MYOCLONUS EPILEPSY; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOPLEGIA; PHENOTYPE; PRIORITY JOURNAL; RETINOPATHY; SACCADIC EYE MOVEMENT;

BIOPSY; CEREBELLAR ATAXIA; COMORBIDITY; DNA, MITOCHONDRIAL; ELECTROCARDIOGRAPHY; EPILEPSIES, MYOCLONIC; HEARING LOSS; HUMANS; KEARNS-SAYRE SYNDROME; MALE; MERRF SYNDROME; MIDDLE AGED; MUSCLE WEAKNESS; MUTATION; QUADRICEPS MUSCLE;

EID: 80052065901     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.22149     Document Type: Article

References (16)

1. Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988;331:717-719.
2. Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988;242:1427-1430.
3. Brandon MC, Lott MT, Nguyen KC, Spolim S, Navathe SB, Baldi P, et al. MITOMAP: a human mitochondrial genome database-2004 update. Nucleic Acids Res 2005;33:D611-613.
4. Yoneda M, Tanno Y, Horai S, Ozawa T, Miyatake T, Tsuji S. A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers. Biochem Int 1990;21:789-796.
5. Harding AE, Hammans SR. Deletions of the mitochondrial genome. J Inherit Metab Dis 1992;15:480-486.
6. DiMauro S, Servidei S, Zeviani M, DiRocco M, DeVivo DC, DiDonato S, et al. Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol 1987;22:498-506.
7. Naini A, Shanske S. Detection of mutations in mtDNA. Methods Cell Biol 2007;80:437-463.
8. Pulkes T, Hanna MG. Human mitochondrial DNA diseases. Adv Drug Deliv Rev 2001;49:27-43.
9. Anan R, Nakagawa M, Miyata M, Higuchi I, Nakao S, Suehara M, et al. Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation 1995;91:955-961.
10. Zeviani M, Moraes CT, DiMauro S, Nakase H, Bonilla E, Schon EA, et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1988;38:1339-1346.
11. Goto YI, Tsugane K, Tanabe Y, Nonaka I, Horai S. A new point mutation at nucleotide pair-3291 of the mitochondrial transfer-RNALeu(Uur) gene in a patient with mitochondrial myopathy, encephalopathy, lactic-acidosis, and stroke-like episodes (MELAS). Biochem Biophys Res Commun 1994;202:1624-1630.
12. Hao R, Yao YN, Zheng YG, Xu MG, Wang ED. Reduction of mitochondrial tRNALeu(UUR) aminoacylation by some MELAS-associated mutations. FEBS Lett 2004;578:135-139.
13. Kirino Y, Goto Y, Campos Y, Arenas J, Suzuki T. Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease. Proc Natl Acad Sci USA 2005;102:7127-7132.
14. Uziel G, Carrara F, Granata T, Lamantea E, Mora M, Zeviani M. Neuromuscular syndrome associated with the 3291T!C mutation of mitochondrial DNA: a second case. Neuromuscul Disord 2000;10: 415-418.
15. Valente L, Piga D, Lamantea E, Carrara F, Uziel G, Cudia P, et al. Identification of novel mutations in five patients with mitochondrial encephalomyopathy. Biochim Biophys Acta 2009;1787: 491-501.
16. Nishigaki Y, Tadesse S, Bonilla E, Shungu D, Hersh S, Keats BJ, et al. A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome. Neuromuscul Disord 2003;13:334-340.