Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: An overview study

References

• Aharoni S, Traves TA, Melamed E, Cohen S, Silver EL. 2010. MELAS syndrome associated with both A3243G-tRNALeu mutation and multiple mitochondrial DNA deletions. J Neurol Sci. 296:101–103.
   PubMed Web of Science ®Google Scholar
• Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG. 1981. Sequence and organization of the human mitochondrial genome. Nature. 290:457–465.
   PubMed Web of Science ®Google Scholar
• Au WS, Lu L, Yeung CM, Liu CC, Wong OG, Lai L, Kung HF, Lin MC. 2008. Hepatocyte nuclear factor 1 binding element within the promoter of microsomal triglyceride transfer protein (MTTP) gene is crucial for MTTP basal expression and insulin responsiveness. J Mol Endocrinol. 41 4: 229–238.
   PubMed Web of Science ®Google Scholar
• Austin S, Vriesendorp F, Thandroyen F, Hecht J, Jones O, Johns D. 1998. Expanding the phenotype of the 8344 transfer RNA lysine mitochondrial DNA mutation. Neurology. 51:1447–1450.
   PubMed Web of Science ®Google Scholar
• Ayed IB, Chamkha I, Mkaouar-Rebai E, Kammoun T, Mezghani N, Chabchoub I, Aloulou H, Hachicha M, Fakhfakh F. 2011. A Tunisian patient with Pearson syndrome harboring the 4.977 kb common deletion associated to two novel large-scale mitochondrial deletions. Biochem Biophys Res Commun. 411 2: 381–386.
   PubMed Web of Science ®Google Scholar
• Ballana E, Govea N, de Cid R, Garcia C, Arribas C, Rosell J, Estivill X. 2008. Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations. Hum Mutat. 29:248–257.
   PubMed Web of Science ®Google Scholar
• Ballinger SW, Shoffner JM, Hedaya EV, Trounce I, Polak MA, Koontz DA, Wallace DC. 1992. Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nat Genet. 1 1: 11–15.
   PubMed Web of Science ®Google Scholar
• Baracca A, Barogi S, Carelli V, Lenaz G, Solaini G. 2000. Catalytic activities of mitochondrial ATP synthase in patients with mitochondrial DNA T8993G mutation in the ATPase 6 gene encoding subunit a. J Biol Chem. 275:4177–4182.
   PubMed Web of Science ®Google Scholar
• Barrientos A, Casademont J, Saiz A, Cardellach F, Volpini V, Solans A, Tolosa E, Urbano-Marquez A, Estivill X, Nunes V. 1996. Autosomal recessive Wolfram syndrome associated with an 8.5 kb mtDNA single deletion. Am J Hum Genet. 58:963–970.
   PubMed Web of Science ®Google Scholar
• Berardo A, DiMauro S, Hirano M. 2010. A diagnostic algorithm for metabolic myopathies. Curr Neurol Neurosci Rep. 10:118–126.
   PubMed Web of Science ®Google Scholar
• Blaw ME, Mize CE. 1990. Juvenile Pearson syndrome. J Child Neurol. 5:186–190.
   Web of Science ®Google Scholar
• Bosbach S, Kornblum C, Schröder R, Wagner M. 2003. Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. Brain. 126:1231–1240.
   PubMed Web of Science ®Google Scholar
• Boudina S, Abel ED. 2010. Diabetic cardiomyopathy, causes and effects. Rev Endocr Metab Disord. 11:31–39.
   PubMed Web of Science ®Google Scholar
• Chamkha I, Mkaouar-Rebai E, Aloulou H, Chabchoub I, Kifagi C, Fendri-Kriaa N, Kammoun T, Hachicha M, Fakhfakh F. 2011. A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss. Biochem Biophys Res Commun. 404 1: 504–510.
   PubMed Web of Science ®Google Scholar
• Chen J, Hattori Y, Nakajima K, Eizawa T, Ehara T, Koyama M, Hirai T, Fukuda Y, Kinoshita M, Sugiyama A, Hayashi J, Onaya T, Kobayashi T, Tawata M. 2006. Mitochondrial complex I activity is significantly decreased in a patient with maternally inherited type 2 diabetes mellitus and hypertrophic cardiomyopathy associated with mitochondrial DNA C3310T mutation: A cybrid study. Diabetes Res Clin Pract. 74:148–153.
   PubMed Web of Science ®Google Scholar
• Chinnery PF, Johnson MA, Wardell TM, Singh-Kler R, Hayes C, Brown DT, Taylor RW, Bindoff LA, Turnbull DM. 2000. Epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol. 48:188–193.
   PubMed Web of Science ®Google Scholar
• Cortopassi GA, Arnheim N. 1990. Detection of a specific mitochondrial DNA deletion in tissues of older humans. Nucleic Acids Res. 18:6927–6933.
   PubMed Web of Science ®Google Scholar
• Cremers CW, Wijdeveld PG, Pinckers AJ. 1977. Juvenile diabetes melitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 new patients. Acta Paediatr Scand. 264:S1–S16.
   Google Scholar
• Crispim D, Estivalet AA, Roisenberg I, Gross JL, Canani LH. 2008. Prevalence of 15 mitochondrial DNA mutations among type 2 diabetic patients with or without clinical characteristics of maternally inherited diabetes and deafness. Arq Bras Endocrinol Metabol. 52 8: 1228–1235.
   PubMedGoogle Scholar
• Dahl HH. 1998. Getting to the nucleus of mitochondrial disorders: Identification of respiratory chain-enzyme genes causing Leigh syndrome. Am J Hum Genet. 63 6: 1594–1597.
   PubMed Web of Science ®Google Scholar
• Dai P, Liu X, Han D, Qian Y, Huang D, Yuan H, Li W, Yu F, Zhang R, Lin H, He Y, Yu Y, Sun Q, Qin H, Li R, Zhang X, Kang D, Cao J, Young WY, Guan MX. 2006. Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: Implication for early detection and prevention of deafness. Biochem Biophys Res Commun. 340:194–199.
   PubMed Web of Science ®Google Scholar
• Damore ME, Speiser PW, Slonim AE, New MI, Shanske S, Xia W, Santorelli FM, DiMauro S. 1999. Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: Patient report and literature review. J Pediatr Endocrinol Metab. 12:207–213.
   PubMed Web of Science ®Google Scholar
• De Coo IF, Renier WO, Ruitenbeek W, Ter Laak HJ, Bakker M, Schägger H, Van Oost BA, Smeets HJ. 1999. A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome. Ann Neurol. 45:130–133.
   PubMed Web of Science ®Google Scholar
• De Kremer RD, Paschini-Capra A, Bacman S, Argaraña C, Civallero G, Kelley RI, Guelbert N, Latini A, de Halac IN, Giner-Ayala A, Johnston J, Proujansky R, Gonzalez I, Depetris-Boldini C, Oller-Ramírez A, Angaroni C, Theaux RA, Hliba E, Juaneda E. 2001. Barth's syndrome-like disorder: A new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation). Am J Med Genet. 99:83–93.
   PubMed Web of Science ®Google Scholar
• Degoul F, Diry M, Rodriguez D, Robain O, Francois D, Ponsot G, Marsac C, Desguerre I. 1995. Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA T8993G point mutation. J Inherit Metab Dis. 18:682–688.
   PubMed Web of Science ®Google Scholar
• del Castillo FJ, Rodríguez-Ballesteros M, Martín Y, Arellano B, Gallo-Terán J, Morales-Angulo C, Ramírez-Camacho R, Cruz Tapia M, Solanellas J, Martínez-Conde A, Villamar M, Moreno-Pelayo MA, Moreno F, del Castillo I. 2003. Heteroplasmy for the 1555A>G mutation in themitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss. J Med Genet. 40:632–636.
   PubMed Web of Science ®Google Scholar
• Deschauer M, Neudecker S, Müller T, Gellerich FN, Zierz S. 2000. Higher proportion of mitochondrial A3243G mutation in blood than in skeletal muscle in a patient with cardiomyopathy and hearing loss. Mol Genet Metab. 70:235–237.
   PubMed Web of Science ®Google Scholar
• DiMauro S, Schon EA. 2003. Mitochondrial respiratory-chain diseases. N Engl J Med. 348:2656–2668.
   PubMed Web of Science ®Google Scholar
• Donovan LE, Severin NE. 2006. Maternally inherited diabetes and deafness in a North American kindred: Tips for making the diagnosis and review of unique management issues. J Clin Endocrinol Metab. 91:4737–4742.
   PubMed Web of Science ®Google Scholar
• El-Shanti H, Lidral AC, Jarrah N, Druhan L, Ajlouni K. 2000. Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q. Am J Hum Genet. 66:1229–1236.
   PubMed Web of Science ®Google Scholar
• Emmanuele V, Silvers DS, Sotiriou E, Tanji K, DiMauro S, Hirano M. 2011. MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation. Muscle Nerve. 44 3: 448–451.
   PubMed Web of Science ®Google Scholar
• Enter C, Müller-Höcker J, Zierz S, Kurlemann G, Pongratz D, Förster C, Obermaier-Kusser B, Gerbitz KD. 1991. A specific point mutation in the mitochondrial genome of Caucasians with MELAS. Hum Genet. 88:233–236.
   PubMed Web of Science ®Google Scholar
• Estivill X, Govea N, Barceló E, Badenas C, Romero E, Moral L, Scozzri R, D'Urbano L, Zeviani M, Torroni A. 1998. A familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet. 62:27–35.
   PubMed Web of Science ®Google Scholar
• Ferlin T, Landrieu P, Rambaud C, Fernandez H, Dumoulin R, Rustin P, Mousson B. 1997. Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome. J Pediatr. 131:447–449.
   PubMed Web of Science ®Google Scholar
• Finsterer J. 2008. Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol. 39 4: 223–235.
   PubMed Web of Science ®Google Scholar
• Fischel-Ghodsian N, Prezant TR, Bu X, Oztas S. 1993. Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity. Am J Otolaryngol. 14:399–403.
   PubMed Web of Science ®Google Scholar
• Goto Y, Horai S, Matsuoka T, Koga Y, Nihei K, Kobayashi M, Nonaka I. 1992. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): A correlative study of the clinical features and mitochondrial DNA mutation. Neurology. 42:545–550.
   PubMed Web of Science ®Google Scholar
• Goto Y, Nonaka I, Horai S. 1990. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature. 348 6302: 651–653.
   PubMed Web of Science ®Google Scholar
• Greaves LC, Reeve AK, Taylor RW, Turnbull DM. 2012. Mitochondrial DNA and disease. J Pathol. 226 2: 274–286.
   PubMed Web of Science ®Google Scholar
• Hao H, Bonilla E, Manfredi G, DiMauro S, Moraes CT. 1995. Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus. Am J Hum Genet. 56:1017–1025.
   PubMed Web of Science ®Google Scholar
• Hirai A, Suzuki S, Onoda M, Hinokio Y, Hirai A, Ohtomo M, Chiba M, Kasuga S, Hirai S, Satoh Y, Akai H, Miyabayashi S, Toyota T. 1998. Mitochondrial deoxyribonucleic acid 3256C-T mutation in a Japanese family with non-insulin-dependent diabetes mellitus. J Clin Endocrinol Metab. 83:992–994.
   PubMed Web of Science ®Google Scholar
• Hobbie SN, Bruell C, Kalapala S, Akshay S, Schmidt S, Pfister P, Böttger EC. 2006. A genetic model to investigate drug-target interactions at the ribosomal decoding site. Biochimie. 88 8: 1033–1043.
   PubMed Web of Science ®Google Scholar
• Hofmann S, Bezold R, Jaksch M, Obermaier-Kusser B, Mertens S, Kaufhold P, Rabl W, Hecker W, Gerbitz KD. 1997. Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes. Genomics. 39:8–18.
   PubMed Web of Science ®Google Scholar
• Hutchin TP, Parker MJ, Young ID. 2000. A novel mutation in the mitochondrial tRNASer(UCN) gene in a family with non-syndromic sensorineural hearing impairment. J Med Genet. 37:692–694.
   PubMed Web of Science ®Google Scholar
• Inoue H, Tanizawa Y, Wasson J. 1998. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet. 20:143–148.
   PubMed Web of Science ®Google Scholar
• Jung J, Mauguière F, Clerc-Renaud P, Ollagnon E, Mousson de Camaret B, Ryvlin P. 2007. NARP mitochondriopathy: An unusual cause of progressive myoclonic epilepsy. Neurology. 68:1429–1430.
   PubMed Web of Science ®Google Scholar
• Kameoka K, Isotani H, Tanaka K, Kitaoka H, Ohsawa N. 1998. Impaired insulin secretion in Japanese diabetic subjects with an A-to-G mutation at nuceotide 8296 of the mitochondrial DNA in tRNA(Lys). Diabetes Care. 21:2034–2035.
   PubMed Web of Science ®Google Scholar
• Kawarai T, Kawakami H, Kozuka K, Izumi Y, Matsuyama Z, Watanabe C, Kohriyama T, Nakamura S. 1997. A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA(Leu)(UUR) 3254 C-to-G. Neurology. 49:598–600.
   PubMed Web of Science ®Google Scholar
• Kearns TP, Sayre GP. 1958. Retinitis pigmentosa, external ophthalmophegia, and complete heart block: Unusual syndrome with histologic study in one of two cases. AMA Arch Ophthalmol. 60 2: 280–289.
   PubMedGoogle Scholar
• Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM, Kirk EP, Boneh A, Taylor RW, Dahl HH, Ryan MT, Thorburn DR. 2004. NUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. J Clin Invest. 114:837–845.
   PubMed Web of Science ®Google Scholar
• Kokotas H, Petersen MB, Willems PJ. 2007. Mitochondrial deafness. Clin Genet. 71 5: 379–391.
   PubMed Web of Science ®Google Scholar
• Laloi-Michelin M, Virally M, Jardel C, Meas T, Ingster-Moati I, Lombès A, Massin P, Chabriat H, Tielmans A, Mikol J, Guillausseau PJ. 2006. Kearns Sayre syndrome: An unusual form of mitochondrial diabetes. Diabetes Metab. 32 2: 182–186.
   PubMed Web of Science ®Google Scholar
• Lam CW, Lau CH, Williams JC, Chan YW, Wong LJ. 1997. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy. Eur J Pediatr. 156:562–564.
   PubMed Web of Science ®Google Scholar
• Leigh D. 1951. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry. 14:216–221.
   PubMed Web of Science ®Google Scholar
• Lev D, Nissenkorn A, Leshinsky-Silver E, Sadeh M, Zeharia A, Garty BZ, Blieden L, Barash V, Lerman-Sagie T. 2004. Clinical presentations of mitochondrial cardiomyopathies. Pediatr Cardiol. 25:443–450.
   PubMed Web of Science ®Google Scholar
• Li Z, Li R, Chen J, Liao Z, Zhu Y, Qian Y, Xiong S, Heman-Ackah S, Wu J, Choo DI, Guan MX. 2005. Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside induced and non-syndromic hearing loss. Hum Genet. 117:9–15.
   PubMed Web of Science ®Google Scholar
• Liolitsa D, Rahman S, Benton S, Carr LJ, Hanna MG. 2003. Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?. Ann Neurol. 53 1: 128–132.
   PubMed Web of Science ®Google Scholar
• Lu J, Li Z, Zhu Y. Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss. Mitochondrion. 2010a; 10:380–390.
   PubMed Web of Science ®Google Scholar
• Lu J, Qian Y, Li Z, Yang A, Zhu Y, Li R, Yang L, Tang X, Chen B, Ding Y, Li Y, You J, Zheng J, Tao Z, Zhao F, Wang J, Sun D, Zhao J, Meng Y, Guan MX. Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation. Mitochondrion. 2010b; 10:69–81.
   PubMed Web of Science ®Google Scholar
• Lynn S, Wardell T, Johnson M, Chinnery PF, Daly ME, Walker M, Turnbull DM. 1998. Mitochondrial diabetes: Investigation and identification of a novel mutation. Diabetes. 47:1800–1802.
   PubMed Web of Science ®Google Scholar
• Maassen JA, 'T Hart LM, Van Essen E, Heine RJ, Nijpels G, Jahangir Tafrechi RS, Raap AK, Janssen GM, Lemkes HH. 2004. Mitochondrial diabetes: Molecular mechanisms and clinical presentation. Diabetes. 53:S103–S109.
   PubMed Web of Science ®Google Scholar
• Majamaa K, Moilanen JS, Uimonen S, Remes AM, Salmela PI, Kärppä M, Majamaa-Voltti KA, Rusanen H, Sorri M, Peuhkurinen KJ, Hassinen IE. 1998. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: Prevalence of the mutation in an adult population. Am J hum Genet. 63:447–454.
   PubMed Web of Science ®Google Scholar
• Manouvrier S, Rötig A, Hannebique G, Gheerbrandt JD, Royer-Legrain G, Munnich A, Parent M, Grünfeld JP, Largilliere C, Lombes A. 1995. Point mutation of the mitochondrial tRNA(leu) gene (A3243G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness. J Med Genet. 32:654–656.
   PubMed Web of Science ®Google Scholar
• Manwaring N, Jones MM, Wang JJ, Rochtchina E, Howard C, Mitchell P, Sue CM. 2007. Population prevalence of the MELAS A3243G mutation. Mitochondrion. 7:230–233.
   PubMed Web of Science ®Google Scholar
• Marie SK, Goto YI, Passos-Bueno MR, Zatz M, Carvalho AA, Carvalho M, Levy JA, Palou VB, Campiotto S, Horai S. 1994. A Caucasian family with the 3271 mutation in mitochondrial DNA. Biochem Med Metab Biol. 52:136–139.
   PubMedGoogle Scholar
• Marin-Garcia J, Ananthakrishnan R, Korson M, Goldenthal MJ, Perez-Atayde A. 1996. Cardiac mitochondrial dysfunction in Leigh syndrome. Pediatr Cardiol. 17:387–389.
   PubMed Web of Science ®Google Scholar
• Marin-Garcia J, Goldenthal MJ, Pierpont EM, Ananthakrishnan R, Perez-Atayde A. 1999. Is age a contributory factor of mitochondrial bioenergetic decline and DNA defects in idiopathic dilated cardiomyopathy?. Cardiovasc Pathol. 8:217–222.
   PubMed Web of Science ®Google Scholar
• Martin L, Toutain A, Guillen C, Haftek M, Machet MC, Toledano C, Arbeille B, Lorette G, Rötig A, Vaillant L. 2000. Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome. Br J Dermatol. 143:876–883.
   PubMed Web of Science ®Google Scholar
• Matsumoto J, Saver JL, Brennan KC, Ringman JM. 2005. Mitochondrial encephalomyopathy with lactic acidosis and stroke (MELAS). Rev Neurol Dis Winter. 2 1: 30–34.
   PubMedGoogle Scholar
• Mattiazzi M, Vijayvergiya C, Gajewski CD, DeVivo DC, Lenaz G, Wiedmann M, Manfredi G. 2004. The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants. Hum Mol Genet. 13:869–879.
   PubMed Web of Science ®Google Scholar
• McFarland R, Schaefer AM, Gardner JL, Lynn S, Hayes CM, Barron MJ, Walker M, Chinnery PF, Taylor RW, Turnbull DM. 2004. Familial myopathy: New insights into the T14709C mitochondrial tRNA mutation. Ann Neurol. 55:478–484.
   PubMed Web of Science ®Google Scholar
• Mezghani N, Mkaouar-Rebai E, Mnif M, Charfi N, Rekik N, Youssef S, Abid M, Fakhfakh F. 2010. The heteroplasmic m.14709T>C mutation in the tRNAGlu gene in two Tunisian families with mitochondrial diabetes. J. Diabetes Complications. 24 4: 270–277.
   PubMed Web of Science ®Google Scholar
• Mezghani N, Mnif M, Kacem M, Mkaouar-Rebai E, Hadj Salem I, Kallel N, Charfi N, Abid M, Fakhfakh F. A whole mitochondrial genome screening in a MELAS patient: A novel mitochondrial tRNAVal mutation. Biochem Biophys Res Commun. 2011a; 407 4: 747–752.
   PubMed Web of Science ®Google Scholar
• Mezghani N, Mnif M, Mkaouar-Rebai E, Kallel N, Salem IH, Charfi N, Abid M, Fakhfakh F. The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a case of Wolfram syndrome and cardiomyopathy. Biochem Biophys Res Commun. 2011b; 411 2: 247–252.
   PubMed Web of Science ®Google Scholar
• Miyabayashi S, Hanamizu H, Endo H, Tada K, Horai S. 1991. A new type of mitochondrial DNA deletion in patients with encephalomyopathy. J Inherit Metab Dis. 14 5: 805–812.
   PubMed Web of Science ®Google Scholar
• Mkaouar-Rebai E, Chaari W, Younes S, Bousoffara R, Sfar MT, Fakhfakh F. Maternally inherited Leigh syndrome: T8993G mutation in a Tunisian family. Pediatr Neurol. 2009a; 40:437–442.
   PubMed Web of Science ®Google Scholar
• Mkaouar-Rebai E, Chamkha I, Kammoun F, Kammoun T, Aloulou H, Hachicha M, Triki C, Fakhfakh F. Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNATrp in patients with Leigh syndrome. Mol Genet Metab. 2009b; 97:179–184.
   PubMed Web of Science ®Google Scholar
• Mkaouar-Rebai E, Chamkha I, Kammoun T, Chabchoub I, Aloulou H, Fendri N, Hachicha M, Fakhfakh F. A case of Kearns-Sayre syndrome with two novel deletions (9.768 and 7.253 kb) of the mtDNA associated with the common deletion in blood leukocytes, buccal mucosa and hair follicles. Mitochondrion. 2010b; 10 5: 449–455.
   PubMed Web of Science ®Google Scholar
• Mkaouar-Rebai E, Ellouze E, Chamkha I, Kammoun F, Triki C, Fakhfakh F. 2011. Molecular-clinical correlation in a family with a novel heteroplasmic Leigh syndrome missense mutation in the mitochondrial cytochrome c oxidase III gene. J Child Neurol. 26 1: 12–20.
   PubMed Web of Science ®Google Scholar
• Mkaouar-Rebai E, Fendri-Kriaa N, Louhichi N, Tlili A, Triki C, Ghorbel A, Masmoudi S, Fakhfakh F. Whole mitochondrial genome screening in two families with hearing loss: Detection of a novel mutation in the 12S rRNA gene. Biosci Rep. 2010a; 30 6: 405–411.
   PubMed Web of Science ®Google Scholar
• Mkaouar-Rebai E, Kammoun F, Chamkha I, Kammoun N, Hsairi I, Triki C, Fakhfakh F. A de novo mutation in the ATPase 8 gene in a patient with mitochondrial disorder. J Child Neurol. 2010c; 25 6: 770–775.
   PubMed Web of Science ®Google Scholar
• Mkaouar-Rebai E, Tlili A, Masmoudi S, Louhichi N, Charfeddine I, Ben Amor M, Lahmar I, Driss N, Drira M, Ayadi H, Fakhfakh F. 2006. Mutational analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in Tunisian patients with nonsyndromic hearing loss. Biochem Biophys Res Commun. 340:1251–1258.
   PubMed Web of Science ®Google Scholar
• Moraes CT, Ciacci F, Bonilla E, Jansen C, Hirano M, Rao N, Lovelace RE, Rowland LP, Schon EA, DiMauro S. 1993. Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNALeu(UUR) gene an etiologic hot spot?. J Clin Invest. 92:2906–2915.
   PubMed Web of Science ®Google Scholar
• Nakamura M, Yabe I, Sudo A, Hosoki K, Yaguchi H, Saitoh S, Sasaki H. 2010. MERRF/MELAS overlap syndrome: A double pathogenic mutation in mitochondrial tRNA genes. J Med Genet. 47:659–664.
   PubMed Web of Science ®Google Scholar
• Newmeyer DD, Ferguson-Miller S. 2003. Mitochondria: Releasing power for life and unleashing the machineries of death. Cell. 112:481–490.
   PubMed Web of Science ®Google Scholar
• Ozawa T, Tanaka M, Sugiyama S, Hattori K, Ito T, Ohno K, Takahashi A, Sato W, Takada G, Mayumi B. 1990. Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy. Biochem Biophys Res Commun. 170:830–836.
   PubMed Web of Science ®Google Scholar
• Page MM, Asmal AC, Edwards CR. 1976. Recessive inheritance of diabetes: The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Q J Med. 179:505–520.
   Google Scholar
• Pandya A, Xia X, Radnaabazar J, Batsuuri J, Dangaansuren B, Fischel-Ghodsian N, Nance WE. 1997. Mutation in the mitochondrial 12S ribosomal-RNA gene in 2 families from Mongolia with matrilineal aminoglycoside ototoxicity. J Med Genet. 34:169–172.
   PubMed Web of Science ®Google Scholar
• Pastores GM, Santorelli FM, Shanske S, Gelb BD, Fyfe B, Wolfe D, Willner JP. 1994. Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial point mutation (T8993G). Am J Med Genet. 50:265–271.
   PubMed Web of Science ®Google Scholar
• Pavicic WH, Richard SM. 2009. Correlation analysis between mtDNA 4977-bp deletion and ageing. Mutat Res. 670 1–2: 99–102.
   PubMed Web of Science ®Google Scholar
• Pearson HA, Lobel JS, Kocoshis SA, Naiman JL, Windmiller J, Lammi AT, Hoffman R, Marsh JC. 1979. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr. 95 6: 976–984.
   PubMed Web of Science ®Google Scholar
• Pistilli D, di Gioia CR, D'Amati G, Sciacchitano S, Quaglione R, Quitadamo R, Casali C, Gallo P, Santorelli FM. 2003. Detection of deleted mitochondrial DNA in Kearns–Sayre syndrome using laser capture microdissection. Hum Pathol. 34 10: 1058–1061.
   PubMed Web of Science ®Google Scholar
• Polymeropoulos MH, Swift RG, Swift M. 1994. Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. Nat Genet. 8:95–97.
   PubMed Web of Science ®Google Scholar
• Pozzan T, Magalhaes P, Rizzuto R. 2000. The comeback of mitochondria to calcium signalling. Cell Calcium. 28:279–283.
   PubMed Web of Science ®Google Scholar
• Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR. 1996. Leigh syndrome: Clinical features and biochemical and DNA abnormalities. Ann Neurol. 39 3: 343–351.
   PubMed Web of Science ®Google Scholar
• Ramensky V, Bork P, Sunyaev S. 2002. Human non-synonymous SNPs: Server and survey. Nucleic Acids Res.. 30:900–918.
   Web of Science ®Google Scholar
• Ramírez-Miranda A, Navas-Pérez A, Gurria-Quintana L, Vargas-Ortega J, Murillo-Correa C, Zenteno JC. 2008. PCR-based detection of heteroplasmic deleted mitochondrial DNA in Kearns-Sayre syndrome. Arch Soc Esp Oftalmol. 83 3: 155–159.
   PubMedGoogle Scholar
• Ravn K, Wibrand F, Juul Hansen F, Horn N, Rosenberg T, Schwartz M. 2001. An mtDNA mutation, 144453G>A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. Eur J Hum Genet. 9:805–809.
   PubMed Web of Science ®Google Scholar
• Remes AM, Majamaa-Voltti K, Kärppä M, Moilanen JS, Uimonen S, Helander H, Rusanen H, Salmela PI, Sorri M, Hassinen IE, Majamaa K. 2005. Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish population. Neurology. 64 6: 976–981.
   PubMed Web of Science ®Google Scholar
• Rigoli L, Prisco F, Caruso R, Iafusco D, Ursomanno G, Zuccarello D, Ingenito N, Rigoli M, Barberi I. 2001. Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family. Diabet Med. 18:334–336.
   PubMed Web of Science ®Google Scholar
• Rötig A. 2010. Genetic bases of mitochondrial respiratory chain disorders. Diabetes Metab. 36 2: 97–107.
   PubMed Web of Science ®Google Scholar
• Rötig A, Bourgeron T, Chretien D, Rustin P, Munnich A. 1995. Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Hum Mol Genet. 4:1327–1330.
   PubMed Web of Science ®Google Scholar
• Rötig A, Cormier V, Blanche S, Bonnefont JP, Ledeist F, Romero N, Schmitz J, Rustin P, Fischer A, Saudubray JM. 1990. Pearson's marrow-pancreas syndrome: A multisystem mitochondrial disorder in infancy. J Clin Invest. 86:1601–1608.
   PubMed Web of Science ®Google Scholar
• Rötig A, Cormier V, Chatelain P, Francois R, Saudubray JM, Rustin P, Munnich A. 1993. Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (Wolfram syndrome, MIM 222300). J Clin Invest. 91:1095–1098.
   PubMed Web of Science ®Google Scholar
• Samuels DC, Schon EA, Chinnery PF. 2004. Two direct repeats cause most human mtDNA deletions. Trends Genet. 20 9: 393–398.
   PubMed Web of Science ®Google Scholar
• Sano M, Ozawa M, Shiota S, Momose Y, Uchigata M, Goto YI. 1996. The T-C (8356) mitochondrial DNA mutation in a Japanese family. J Neurol. 243:441–444.
   PubMed Web of Science ®Google Scholar
• Santorelli FM, Barmada MA, Pons R, Zhang LL, DiMauro S. 1996. Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion. Neurology. 47:1320–1323.
   PubMed Web of Science ®Google Scholar
• Scaglia F, Northrop JL. 2006. The mitochondrial myopathy encephalopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome: A review of treatment options. CNS Drugs. 20 6: 443–464.
   PubMed Web of Science ®Google Scholar
• Scaglia F, Wong LJ. 2008. Human mitochondrial transfer RNAs: Role of pathogenic mutation in disease. Muscle Nerve. 37:150–171.
   PubMed Web of Science ®Google Scholar
• Schaefer AM, McFarland R, Blakely EL, He L, Whittaker RG, Taylor RW, Chinnery PF, Turnbull DM. 2008. Prevalence of mitochondrial DNA disease in adults. Ann Neurol. 63:35–39.
   PubMed Web of Science ®Google Scholar
• Schaefer AM, Taylor RW, Turnbull DM, Chinnery PF. 2004. The epidemiology of mitochondrial disorders-past, present and future. Biochim Biophys Acta. 1659:115–120.
   PubMed Web of Science ®Google Scholar
• Seneca S, Verhelst H, De Meirleir L, Meire F, Ceuterick-De Groote C, Lissens W, Van Coster R. 2001. A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome. Arch Neurol. 58 7: 1113–1118.
   PubMedGoogle Scholar
• Sevior KB, Hatamochi A, Stewart IA, Bykhovskaya Y, Allen-Powell DR, Fischel-Ghodsian N, Maw MA. 1998. Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness. Am J Med Genet. 75:179–185.
   PubMed Web of Science ®Google Scholar
• Sue CM, Tanji K, Hadjigeorgiou G, Andreu AL, Nishino I, Krishna S, Bruno C, Hirano M, Shanske S, Bonilla E, Fischel-Ghodsian N, DiMauro S, Friedman R. 1999. Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. Neurology. 52:1905–1908.
   PubMed Web of Science ®Google Scholar
• Sunyaev S, Ramensky V, Koch I, Lathe W3rd, Kondrashov AS, Bork P. 2001. Prediction of deleterious human alleles. Hum Mol Genet. 10:591–597.
   PubMed Web of Science ®Google Scholar
• Suzuki Y, Suzuki S, Hinokio Y, Chiba M, Atsumi Y, Hosokawa K, Shimada A, Asahina T, Matsuoka K. 1997. Diabetes associated with a novel 3264 mitochondrial tRNALeu(UUR) mutation. Diabetes Care. 20:1138–1140.
   PubMed Web of Science ®Google Scholar
• Tang X, Yang L, Zhu Y, Liao Z, Wang J, Qian Y, Tao Z, Hu L, Wu G, Lan J, Wang X, Ji J, Wu J, Ji Y, Feng J, Chen J, Li Z, Zhang X, Lu J, Guan MX. 2007. Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation. Gene. 393:11–19.
   PubMed Web of Science ®Google Scholar
• Tiranti V, Chariot P, Carella F, Toscano A, Soliveri P, Girlanda P, Carrara F, Fratta GM, Reid FM, Mariotti C, Zeviani M. 1995. Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene. Hum Mol Genet. 4:1421–1427.
   PubMed Web of Science ®Google Scholar
• Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy MP, Enriquez JA, Uziel G, Bertini E, Dionisi-Vici C, Franco B, Meitinger T, Zeviani M. 1998. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet. 63 6: 1609–1621.
   PubMed Web of Science ®Google Scholar
• Tóth T, Bókay J, Szönyi L, Nagy B, Papp Z. 1998. Detection of mtDNA deletion in Pearson syndrome by two independent PCR assays from Guthrie card. Clin Genet. 53 3: 210–213.
   PubMed Web of Science ®Google Scholar
• Tsukuda K, Suzuki Y, Kameoka K, Osawa N, Goto Y, Katagiri H, Asano T, Yazaki Y, Oka Y. 1997. Screening of patients with maternally transmitted diabetes for mitochondrial gene mutations in the tRNALeu(UUR) region. Diabet Med. 14:1032–1037.
   PubMed Web of Science ®Google Scholar
• Tucker EJ, Compton AG, Thorburn DR. 2010. Recent advances in the genetics of mitochondrial encephalopathies. Curr Neurol Neurosci Rep. 10:277–285.
   PubMed Web of Science ®Google Scholar
• Usami S, Abe S, Akita J, Namba A, Shinkawa H, Ishii M, Iwasaki S, Hoshino T, Ito J, Doi K, Kubo T, Nakagawa T, Komiyama S, Tono T, Komune S. 2000. Prevalence of mitochondrial gene mutations among hearing impaired patients. J Med Genet. 37:38–40.
   PubMed Web of Science ®Google Scholar
• Uziel G, Ghezzi D, Zeviani M. 2011. Infantile mitochondrial encephalopathy. Semin Fetal Neonatal Med. 16 4: 205–215.
   PubMed Web of Science ®Google Scholar
• van den Ouweland JM, de Klerk JB, van de Corput MP, Dirks RW, Raap AK, Scholte HR, Huijmans JG, Hart LM, Bruining GJ, Maassen JA. 2000. Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome. Eur J Hum Genet. 8:195–203.
   PubMed Web of Science ®Google Scholar
• van der Giezen M, Tovar J. 2005. Degenerate mitochondria. EMBO Rep. 6:525–530.
   PubMed Web of Science ®Google Scholar
• Velho G, Byrne MM, Clément K, Sturis J, Pueyo ME, Blanché H, Vionnet N, Fiet J, Passa P, Robert JJ, Polonsky KS, Froguel P. 1996. Clinical phenotypes, insulin secretion, and insulin sensitivity in kindreds with maternally inherited diabetes and deafness due to mitochondrial tRNALeu(UUR) gene mutation. Diabetes. 45:478–487.
   PubMed Web of Science ®Google Scholar
• Verhoeven K, Ensink RJ, Tiranti V, Huygen PL, Johnson DF, Schatteman I, Van Laer L, Verstreken M, Van de Heyning P, Fischel-Ghodsian N, Zeviani M, Cremers CW, Willems PJ, Van Camp G. 1999. Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene. Eur J Hum Genet. 7:45–51.
   PubMed Web of Science ®Google Scholar
• Vialettes B, Paquis-Fluckinger V, Pelissier J-F, Bendahan D, Narbonne H, Silvestre-Aillaud P, Montfort MF, Righini-Chossegros M, Pouget J, Cozzone PJ, Desnuelle C. 1997. Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): A case report. Diabetes Care. 20:1731–1737.
   PubMed Web of Science ®Google Scholar
• Wallace DC. 2005. A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: A dawn for evolutionary medicine. Annu Rev Genet. 39:359–407.
   PubMed Web of Science ®Google Scholar
• Wang X, Lu J, Zhu Y, Yang A, Yang L, Li R, Chen B, Qian Y, Tang X, Wang J, Zhang X, Guan MX. 2008. Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families. Pharmacogenet Genomics. 18:1059–1070.
   PubMed Web of Science ®Google Scholar
• Wilichowski E, Korenke GC, Ruitenbeek W, De Meirleir L, Hagendorff A, Janssen AJ, Lissens W, Hanefeld F. 1998. Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation. J Neurol Sci. 157:206–213.
   PubMed Web of Science ®Google Scholar
• Wong LJ. 2007. Pathogenic mitochondrial DNA mutations in protein-coding genes. Muscle Nerve. 36:279–293.
   PubMed Web of Science ®Google Scholar
• Yau EK, Chan KY, Au KM, Chow TC, Chan YW. 2009. A novel mitochondrial DNA deletion in a Chinese girl with Kearns-Sayre syndrome. Hong Kong Med J. 15 5: 374–377.
   PubMedGoogle Scholar
• Zifa E, Theotokis P, Kaminari A, Maridaki H, Leze H, Petsiava E, Mamuris Z, Stathopoulos C. 2008. A novel G3337A mitochondrial ND1 mutation related to cardiomyopathy co-segregates with tRNALeu(CUN) A12308G and tRNAThr C15946T mutations. Mitochondrion. 8:229–236.
   PubMed Web of Science ®Google Scholar