Mitochondrial-DNA nucleotides G4298A and T10010C as pathogenic mutations: The confirmation in two new cases

Mitochondrion

Volumn 3, Issue 5, 2004, Pages 279-283

  Crimi, Marco ^a   Galbiati, Sara ^a   Sciacco, Monica ^a   Bordoni, Andreina ^a   Natali, Maria Grazia ^c   Raimondi, Monica ^d   Bresolin, Nereo ^a,b   Comi, Giacomo Pietro ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b SCIENTIFIC INSTITUTE   (Italy)

^c SAN RAFFAELE HOSPITAL   (Italy)

^d Ospedale Civico Lugano   (Switzerland)

Author keywords

Encephalomyopathy and point mutation; Mitochondrial (mt)DNA; tRNA gene

Indexed keywords

ALANINE; CREATININE; GLYCINE; MITOCHONDRIAL DNA; TRANSFER RNA;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CORRELATION ANALYSIS; DNA POLYMORPHISM; DNA SEQUENCE; ELECTROMYOGRAPHY; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN TISSUE; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHY; MUSCLE BIOPSY; MUSCLE CRAMP; MUSCLE WEAKNESS; MYALGIA; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; RHABDOMYOLYSIS; SEQUENCE ANALYSIS; SOUTHERN BLOTTING;

EID: 1842558433     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mito.2004.02.004     Document Type: Article

References (21)

1. 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 Nature Genet. 23 1999 147
2. Bidooki S.K. Johnson M.A. Chrzanowska-Lightowlers Z. Bindoff L.A. Lightowlers R.N. Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes Am. J. Hum. Genet. 60 6 1997 1430-1438
3. Bruno C. Kirby D.M. Koga Y. et al. The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy J. Pediatr. 135 2 Pt 1 1999 197-202
4. Dubowitz V. Muscle biopsy: a practical approach 1985 Bailliere Tindall London
5. Goldstein J.D. Shanske S. Bruno C. Perszyk A.A. Maternally inherited mitochondrial cardiomyopathy associated with a C-T transition at nucleotide 3303 of mitochondrial DNA in the tRNA(Leu (UUR)) gene Pediatr. Dev. Pathol. 2 1 1999 78-85 Review
6. Graf W.D. Marin-Garcia J. Gao H.G. et al. Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation J. Child. Neurol. 15 6 2000 357-361
7. Ionasescu V.V. Hart M. DiMauro S. Moraes C.T. Clinical and morphologic features of a myopathy associated with a point mutation in the mitochondrial tRNAPro gene Neurology 44 5 1994 975-977
8. Jaksch M. Klopstock T. Kurlemann G. et al. Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene Ann. Neurol. 44 4 1998 635-640
9. Karadimas C.L. Salviati L. Sacconi S. et al. Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA Neuromuscul. Disord. 12 9 2002 865-868
10. Mansergh F.C. Millington-Ward S. Kennan A. et al. Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene Am. J. Hum. Genet. 64 4 1999 971-985
11. Moraes C.T. Schon E.A. Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR Methods Enzymol. 264 1996 522-540
12. 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 8 2002 1282-1285
13. Ozawa M. Nishino I. Horai S. Nonaka I. Goto Y.I. Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families Muscle Nerve 20 3 1997 271-278
14. Santorelli F.M. Siciliano G. Casali C. et al. Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy Neuromuscul. Disord. 7 3 1997 156-159
15. Sweeney M.G. Brockington M. Weston M.J. Morgan-Hughes J.A. Harding A.E. Mitochondrial DNA transfer RNA mutation Leu(UUR)A→G 3260: a second family with myopathy and cardiomyopathy Q. J. Med. 86 7 1993 435-438
16. Taylor R.W. Chinnery P.F. Bates M.J. et al. A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis Biochem. Biophys. Res. Commun. 243 1 1998 47-51
17. Tanji K. Bonilla E. Neuropathologic aspects of cytochrome C oxidase deficiency Brain Pathol. 10 3 2000 422-430 Review
18. Tulinius M. Moslemi A.R. Darin N. Westerberg B. Wiklund L.M. Holme E. Oldfors A. Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene Neuropediatrics 34 2 2003 87-91
19. Sacconi S. Salviati L. Gooch C. Bonilla E. Shanske S. DiMauro S. Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA Arch. Neurol. 59 6 2002 1013-1015
20. 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. 10 6 2000 415-418
21. Zeviani M. Bresolin N. Gellera C. et al. Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease Am. J. Hum. Genet. 47 6 1990 904-914