Whole mitochondrial genome analysis in two families with dilated mitochondrial cardiomyopathy: detection of mutations in MT-ND2 and MT-TL1 genes

References

• Abu-Amero K, Bosley TM, Morales J. (2008). Analysis of nuclear and mitochondrial genes in patients with pseudoexfoliation glaucoma. Mol Vis 14:29–36
   PubMed Web of Science ®Google Scholar
• Altschul SF, Madden TL, Schäffer AA, Zhang J, Zhang Z, Miller W, Lipman DJ. (1997). Gapped BLAST and PSI-BLAST: A new generation of protein database search programs. Nucleic Acids Res 25:3389–402
   PubMed Web of Science ®Google Scholar
• Andreu AL, Checcarelli N, Iwata S, Shanske S, DiMauro S. (2000). A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy. Pediatr Res 48:311–14
   PubMed Web of Science ®Google Scholar
• Angelini C, Bello L, Spinazzi M, Ferrati C. (2009). Mitochondrial disorders of the nuclear genome. Acta Myol 28:16–23
   PubMedGoogle Scholar
• Arbustini E, Diegoli M, Fasani R, Grasso M, Morbini P, Banchieri N, Bellini O, et al. (1998). Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy. Am J Pathol 153:1501–10
   PubMed Web of Science ®Google Scholar
• Bouhaha R, Abid Kamoun H, Elgaaied A, Ennafaa H. (2010). A3243G mitochondrial DNA mutation in Tunisian diabetic population. Tunis Med 9:642–7
   Google Scholar
• Chamkha I, Mkaouar-Rebai E, Aloulou H, Chabchoub I, Kifagi C, Fendri-Kriaa N, Kammoun T, et al. (2011). A novel m.3395A > G missense mutation in the mitochondrial ND1 gene associated with the new tRNAIle m.4316A > G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss. Biochem Biophys Res Commun 404:504–10
   PubMed Web of Science ®Google Scholar
• DiMauro S, Schon EA. (2001). Mitochondrial DNA mutations in human disease. Am J Med Genet 106:18–26
   PubMed Web of Science ®Google Scholar
• Flierl A, Reichmann H, Seibel P. (1997). Pathophysiology of the MELAS 3243 transition mutation. J Biol Chem 24:27189–96
   Web of Science ®Google Scholar
• Frederiksen AL, Jeppesen TD, Vissing J, Schwartz M, Kyvik KO, Schmitz O, Poulsen PL, et al. (2009). High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A > G mitochondrial DNA mutation-positive subjects. J Clin Endocrinol Metab 94:2872–9
   PubMed Web of Science ®Google Scholar
• Goldstein JD, Shanske S, Bruno C, Perszyk AA. (1999). Maternally inherited mitochondrial cardiomyopathy associated with a C-to-T transition at nucleotide 3303 of mitochondrial DNA in the tRNALeu(UUR) gene. Pediatr Dev Pathol 2:78–85
   PubMed Web of Science ®Google Scholar
• Hagen CM, Aidt FH, Havndrup O, Hedley PL, Jespersgaard C, Jensen M, Kanters JK, et al. (2013). MT-CYB mutations in hypertrophic cardiomyopathy. Mol Genet Genomic Med 1:54–65
   PubMedGoogle Scholar
• Helm M, Florentz C, Chomyn A, Attardi G. (1999). Search for differences in post-transcriptional modification patterns of mitochondrial DNA encoded wild-type and mutant human tRNALys and tRNALeu(UUR). Nucleic Acids Res 27:756–63
   PubMed Web of Science ®Google Scholar
• Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, Anderson C, Ghosh SS, et al. (2002). Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian and European haplogroups. Am J Hum Genet 70:1152–71
   PubMed Web of Science ®Google Scholar
• Hollingsworth KG, Gorman GS, Trenell MI, McFarland R, Taylor RW, Turnbull DM, MacGowan GA, et al. (2012). Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A > G mutation and correlates with mutation load. Neuromuscul Disord 7:592–6
   Web of Science ®Google Scholar
• Ito T, Hattori K, Tanaka M, Sugiyama S, Ozawa T. (1990). Mitochondrial cytopathy. Jpn Circ J 54:1214–20
   PubMedGoogle Scholar
• Ito T, Hattori K, Obayashi T, Tanaka M, Sugiyama S, Ozawa T. (1992). Mitochondrial DNA mutations in cardiomyopathy. Jpn Circ J 56:1045–53
   PubMedGoogle Scholar
• Janssen GMC, Maassen JA, van den Ouweland JMW. (1999). The diabetes-associated 3243 mutation in the mitochondrial tRNALeu(UUR) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate. J Biol Chem 274:29744–8
   PubMed Web of Science ®Google Scholar
• Lewin HA, Stewart-Haynes JA. (1992). A simple method for DNA extraction from leukocytes for use in PCR. Biotechniques 13:522–4
   PubMed Web of Science ®Google Scholar
• Majamaa-Voltti K, Peuhkurinen K, Kortelainen ML, Hassinen IE, Majamaa K. (2002). Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A > G. Cardiovasc Disord 1:2–12
   Google Scholar
• Meyers DE, Basha HI, Koenig MK. (2013). Mitochondrial cardiomyopathy: Mitochondrial cardiomyopathy pathophysiology, diagnosis, and management. Tex Heart Inst J 40:385–94
   PubMed Web of Science ®Google Scholar
• Mezghani N, Mkaouar-Rebai E, Mnif M, Charfi N, Rekik N, Youssef S, Abid M, et al. (2010). The heteroplasmic m.14709T > C mutation in the tRNAGlu gene in two Tunisian families with mitochondrial diabetes. J Diabetes Complicat 24:270–7
   PubMed Web of Science ®Google Scholar
• Mkaouar-Rebai E, Tlili A, Masmoudi S, Belguith N, Charfeddine I, Mnif M, Triki C, et al. (2007). Mutational analysis of the mitochondrial tRNALeu(UUR) gene in Tunisian patients with mitochondrial diseases. Biochem Biophys Res Commun 355:1031–7
   PubMed Web of Science ®Google Scholar
• Moslemi AR, Darin N, Tulinius M, Wiklund LM, Holme E, Oldfors A. (2008). Progressive encephalopathy and complex I deficiency associated with mutations in MTND1. Neuropediatrics 39:24–8
   PubMed Web of Science ®Google Scholar
• Obayashi T, Hattori K, Sugiyama S, Tanaka M, Tanaka T, Itoyama S, Deguchi H, et al. (1992). Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy. Am Heart J 124:1263–9
   PubMed Web of Science ®Google Scholar
• Obermaier-Kusser B, Lorenz B, Schubring S, Paprotta A, Zerres K, Meitinger T, Meire F, et al. (1994). Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy. Am J Hum Genet 55:1063–6
   PubMed Web of Science ®Google Scholar
• Oostra RJ, Bolhuis PA, Wijburg FA, Zorn-Ende G, Bleeker-Wagemakers EM. (1994). Leber's hereditary optic neuropathy: Correlations between mitochondrial genotype and visual outcome. J Med Genet 31:280–6
   PubMed Web of Science ®Google Scholar
• Park H, Davidson E, King MP. (2003). The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation. Biochemistry 42:958–64
   PubMed Web of Science ®Google Scholar
• Rieder MJ, Taylor SL, Tobe VO. (1998). Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome. Nucleic Acids Res 26:967–73
   PubMed Web of Science ®Google Scholar
• Rossmanith W, Karwan RM. (1998). Impairment of tRNA processing by point mutations in mitochondrial tRNALeu(UUR) associated with mitochondrial diseases. FEBS Lett 21:269–74
   Web of Science ®Google Scholar
• Santorelli FM, Tessa A, D’amati G, Casali C. (2001). The emerging concept of mitochondrial cardiomyopathies. Am Heart J 141:1–9
   PubMed Web of Science ®Google Scholar
• Scarpulla RC. (2008). Transcriptional paradigmsin mammalian mitochondrial biogenesis and function. Physiol Rev 88:611–38
   PubMed Web of Science ®Google Scholar
• Schrijver I, Pique LM, Traynis I. (2009). Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathy. Genet Med 2:118–26
   Web of Science ®Google Scholar
• Shutt TE, Shadel GS. (2010). A compendiumof human mitochondrial gene expression machinery with links to disease. Environ Mol Mutagen 51:360–79
   PubMed Web of Science ®Google Scholar
• Taylor RW, Giordano C, Davidson MM, d'Amati G, Bain H, Hayes CM, Leonard H, et al. (2003). A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. J Am Coll Cardiol 41:1786–96
   PubMed Web of Science ®Google Scholar
• Thompson JD, Gibson TJ, Plewniak F, Jeanmougin F, Higgins DG. (1997). The Clustal_X windows interface: flexible strategies for multiple sequence alignment aided by quality analysis tools. Nucleic Acids Res 24:4876–82
   Web of Science ®Google Scholar
• Tsujita Y, Kunitomo T, Fujii M, Furukawa S, Otsuki H, Fujino K, Hamamoto T, et al. (2008). A surviving case of mitochondrial cardiomyopathy diagnosed from the symptoms of multiple organ dysfunction syndrome. Int J Cardiol 1:43–8
   Web of Science ®Google Scholar
• van den Ouweland JM, Lemkes HH, Ruitenbeek W, Sandkuijl LA, de Vijlder MF, Struyvenberg PA, van de Kamp JJ, et al. (1992). Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1:368–71
   PubMed Web of Science ®Google Scholar
• Velho G, Byrne MM, Clément K, Sturis J, Pueyo ME, Blanché H, Vionnet N, et al. (1996). Clinical phenotypes, insulin secretion, and insulin sensitivity in kindreds with maternally inherited diabetes and deafness due to mitochondrial tRNALeu(UUR) gene mutation. Diabetes 45:478–87
   PubMed Web of Science ®Google Scholar
• Vilarinho L, Santorelli FM, Rosas MJ, Tavares C, Melo-Pires M, DiMauro S. (1997). The mitochondrial A3243G mutation presenting as severe cardiomyopathy. Am J Med Genet 34:607–16
   Web of Science ®Google Scholar
• Yoon KL, Ernst SG, Rasmussen C, Dooling EC, Aprille JR. (1993). Mitochondrial disorder associated with newborn cardiopulmonary arrest. Pediatr Res 33:433–40
   PubMed Web of Science ®Google Scholar
• Zhu X, Peng X, Guan MX, Yan Q. (2009). Pathogenic mutations of nuclear genes associated with mitochondrial disorders. Biochim Biophys Acta 41:179–87
   Web of Science ®Google Scholar
• Zifa E, Theotokis P, Kaminari A, Maridaki H, Leze H, Petsiava E, Mamuris Z, et al. (2008). A novel G3337A mitochondrial ND1 mutation related to cardiomyopathy co-segregates with tRNALeu(CUN)A12308G and tRNAThr C15946T mutations. Mitochondrion 8:229–36
   PubMed Web of Science ®Google Scholar