Sequence analysis of the complete mitochondrial genome in patients with mitochondrial encephaloneuromyopathies lacking the common pathogenic DNA mutations

Biochemical and Biophysical Research Communications

Volumn 324, Issue 1, 2004, Pages 360-364

  Da Pozzo, Paola ^a   Cardaioli, Elena ^a,b   Radi, Elena ^a   Federico, Antonio ^a  

^a Perinatology Child Hlth Univ S   (Italy)

^b Italy   (Italy)

Author keywords

Heteroplasmic; Homoplasmic; Mitochondrial encephaloneuromyopathies; mtDNA; Mutation; Polymorphism

Indexed keywords

DNA;

AGED; ARTICLE; AUTOMATION; BRAIN DISEASE; CELL FUNCTION; CONTROLLED STUDY; CORRELATION ANALYSIS; DNA DETERMINATION; DNA POLYMORPHISM; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN GENOME; MALE; MITOCHONDRIAL RESPIRATION; NEUROMUSCULAR DISEASE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TECHNIQUE;

ADULT; AGED; AMINO ACID SEQUENCE; DNA, MITOCHONDRIAL; EVOLUTION, MOLECULAR; FEMALE; GENOME; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIA; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUTATION; POLYMORPHISM, GENETIC; SEQUENCE ANALYSIS, DNA;

GENETTA;

EID: 4744356235     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbrc.2004.09.058     Document Type: Article

References (17)

1. R.M. Andrews, I. Kubacka, P.F. Chinnery, R.N. Lightowlers, D.M. Turnbull, and N. Howell Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA Nat. Genet. 23 1999 147
2. J.M. Shoffner, M.G. Bialer, S.G. Pavlakis, M. Lott, A. Kaufman, J. Dixon, S. Teichberg, and D.C. Wallace Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene Neurology 45 1995 286 292
3. D.C. Wallace, J.H. Ye, S.N. Neckelmann, G. Singh, K.A. Webster, and B.D. Greenberg Sequence analysis of cDNAs for the human and bovine ATP synthase beta subunit: mitochondrial DNA genes sustain seventeen times more mutations Curr. Genet. 12 1987 81 90
4. D.K. Simon, and D.R. Johns Mitochondrial disorders: clinical and genetic features Annu. Rev. Med. 50 1999 111 127
5. S. DiMauro, and A.L. Andreu Mutations in mtDNA: are we scraping the bottom of the barrel? Brain Pathol. 10 2000 431 441
6. V. Carelli, C. Giordano, and G. d'Amati Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction Trends Genet. 19 2003 257 262
7. T.P. Hutchin, and G.A. Cortopassi Mitochondrial defects and hearing loss Cell. Mol. Life Sci. 57 2000 1927 1937
8. R.W. Taylor, C. Giordano, M.M. Davidson, G. d'Amati, H. Bain, C.M. Hayes, H. Leonard, M.J. Barron, C. Casali, F.M. Santorelli, M. Hirano, R.N. Lightowlers, S. DiMauro, and D.M.A. Turnbull Homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy J. Am. Coll. Cardiol. 41 2003 1786 1796
9. S. DiMauro, and C.T. Moraes Mitochondrial encephalomyopathies Arch. Neurol. 50 1993 1197 1208
10. M. Zeviani, and C. Antozzi Mitochondrial disorders Mol. Hum. Reprod. 3 1997 133 148
11. M.H. Liang, and L.J. Wong Yield of mtDNA mutation analysis in 2000 patients Am. J. Med. Genet. 77 1998 395 400
12. Torroni, K. Huoponen, P. Francalacci, M. Petrozzi, L. Morelli, R. Scozzari, D. Obinu, M.L. Savontaus, and D.C. Wallace Classification of European mtDNAs from an analysis of three European populations Genetics 144 1996 1835 1850
13. T.R. Prezant, J.V. Agapian, M.C. Bohlman, X. Bu, S. Oztas, W.Q. Qiu, K.S. Arnos, G.A. Cortopassi, L. Jaber, and J.I. Rotter Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness Nat. Genet. 4 1993 289 294
14. S. Fauser, J. Luberichs, D. Besch, and B. Leo-Kottler Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations Biochem. Biophys. Res. Commun. 295 2002 342 347
15. R. McFarland, K.M. Clark, A.A. Morris, R.W. Taylor, S. Macphail, R.N. Lightowlers, and D.M. Turnbull Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation Nat. Genet. 30 2002 145 146
16. D.R. Marchington, J. Poulton, A. Sellar, and I.J. Holt Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease? Hum. Mol. Genet. 5 1996 473 479
17. S.A. Kovalenko, M. Tanaka, M. Yoneda, A.F. Iakovlev, and T. Ozawa Accumulation of somatic nucleotide substitutions in mitochondrial DNA associated with the 3243 A-to-G tRNA(leu)(UUR) mutation in encephalomyopathy and cardiomyopathy Biochem. Biophys. Res. Commun. 222 1996 201 207