A novel mutation in the mitochondrial tRNAPhe gene associated with mitochondrial myopathy

Neuromuscular Disorders

Volumn 14, Issue 1, 2004, Pages 46-50

  Moslemi, A R ^a   Lindberg, C ^a   Toft, J ^b   Holme, E ^a   Kollberg, G ^a   Oldfors, A ^a  

^a SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^b South Elfsborg Hospital   (Sweden)

Author keywords

Cytochrome c oxidase deficiency; mtDNA; Mutation; Myopathy; tRNA

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; MITOCHONDRIAL RNA; TRANSFER RNA;

AGED; ARTICLE; CASE REPORT; ENZYME DEFICIENCY; FEMALE; GENE FREQUENCY; GENE MUTATION; HETEROPLASMY; HUMAN; MITOCHONDRIAL MYOPATHY; MUSCLE CELL; PRIORITY JOURNAL;

EID: 0345549508     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(03)00168-8     Document Type: Article

References (20)

1. Anderson S., Bankier A.T., Barrell B.G., de Bruijn M.H., Coulson A.R., Drouin J., et al. Sequence and organization of the human mitochondrial genome. Nature. 290:1981;457-465.
2. Larsson N.G., Oldfors A. Mitochondrial myopathies. Acta Physiol Scand. 17:2001;385-393.
3. Mitomap: a human mitochondrial genom database. Atlanta, GA, USA: Center for Molecular Medicine, Emory University; 2002, http://www.mitomap.org.
4. Nashef L., Lane R.J. Screening for mitochondrial cytopathies: the sub-anaerobic threshold exercise test (SATET). J Neurol Neurosurg Psychiatry. 52:1989;1090-1094.
5. Oldfors A., Moslemi A.R., Fyhr I.M., Holme E., Larsson N.G., Lindberg C. Mitochondrial DNA deletions in muscle fibers in inclusion body myositis. J Neuropathol Exp Neurol. 54:1995;581-587.
6. Tulinius M.H., Holme E., Kristiansson B., Larsson N.G., Oldfors A. Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations. J Pediatr. 119:1991;242-250.
7. Moslemi A.R., Selimovic N., Bergh C.H., Oldfors A. Fatal dilated cardiomyopathy associated with a mitochondrial DNA deletion. Cardiology. 94:2000;68-71.
8. Houshmand M., Larsson N.G., Holme E., Oldfors A., Tulinius M.H., Andersen O. Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy. Biochim Biophys Acta. 1226:1994;49-55.
9. Andrews R.M., Kubacka I., Chinnery P.F., Lightowlers R.N., Turnbull D.M., Howell N. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet. 23:1999;147.
10. Moslemi A.R., Tulinius M., Holme E., Oldfors A. Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres. Neuromuscul Disord. 8:1998;345-349.
11. Tzen C.Y., Tsai J.D., Wu T.Y., Chen B.F., Chen M.L., Lin S.P., et al. Tubulointerstitial nephritis associated with a novel mitochondrial point mutation. Kidney Int. 59:2001;846-854.
12. Kleinle S., Schneider V., Moosmann P., Brandner S., Krahenbuhl S., Liechti-Gallati S. A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease. Biochem Biophys Res Commun. 247:1998;112-115.
13. Chinnery P.F., Johnson M.A., Taylor R.W., Lightowlers R.N., Turnbull D.M. A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis. Ann Neurol. 41:1997;408-410.
14. Hanna M.G., Nelson I.P., Morgan-Hughes J.A., Wood N.W. MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity. J Neurol Neurosurg Psychiatry. 65:1998;512-517.
15. Tiranti V., D'Agruma L., Pareyson D., Mora M., Carrara F., Zelante L., et al. A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation. Ann Neurol. 43:1998;98-101.
16. Yasukawa T., Hino N., Suzuki T., Watanabe K., Ueda T., Ohta S. A pathogenic point mutation reduces stability of mitochondrial mutant tRNA(Ile). Nucleic Acids Res. 28:2000;3779-3784.
17. Moraes C.T., Ciacci F., Bonilla E., Ionasescu V., Schon E.A., DiMauro S. A mitochondrial tRNA anticodon swap associated with a muscle disease. Nat Genet. 4:1993;284-288.
18. Moraes C.T., Ciacci F., Bonilla E., Jansen C., Hirano M., Rao N., et al. Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot? J Clin Invest. 92:1993;2906-2915.
19. Nishigaki Y., Bonilla E., Shanske S., Gaskin D.A., DiMauro S., Hirano M. Exercise-induced muscle 'burning,' fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNA(Gly). Neurology. 58:2002;1282-1285.
20. (CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy. Hum Mol Genet. 5:1996;1835-1840.