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Advances in molecular diagnostics for mitochondrial diseases

, MD PhD, , MD, , MD, , PhD, , MD PhD & , MD PhD
Pages 557-569 | Published online: 16 Jul 2009

Bibliography

  • DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med 2003;348:2656-68
  • Lackner LL, Nunnari JM. The molecular mechanism and cellular functions of mitochondrial division. Biochim Biophys Acta published online 3 December 2008, doi:10.1016/j.bbadis.2008.11.011
  • Noji H, Yoshida M. The rotary machine of the cell, ATP synthase. J Biol Chem 2001;276:1665-8
  • Filosto M, Mancuso M. Mitochondrial diseases: a nosological update. Acta Neurol Scand 2007;115:211-21
  • Schaefer AM, McFarland R, Blakely EL, et al. Prevalence of mitochondrial DNA disease in adults. Ann Neurol 2008;63:35-9
  • DiMauro S, Tay S, Mancuso M. Mitochondrial encephalomyopathies: diagnostic approach. Ann NY Acad Sci 2004;1011:217-31
  • Swalwell H, Blakely EL, Sutton R, et al. A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one? Eur J Hum Genet 2008;16:1265-74
  • Li FY, Cuddon PA, Song J, et al. Canine spongiform leukoencephalomyelopathy is associated with a missense mutation in cytochrome b. Neurobiol Dis 2006;21:35-42
  • Li J, Zhou K, Meng X, et al. Increased ROS generation and SOD activity in heteroplasmic tissues of transmitochondrial mice with A3243G mitochondrial DNA mutation. Genet Mol Res 2008;7:1054-62
  • Hargreaves IP, Sheena Y, Land JM, et al. Glutathione deficiency in patients with mitochondrial disease: implications for pathogenesis and treatment. J Inherit Metab Dis 2005;28:81-8
  • Porcelli AM, Angelin A, Ghelli A, et al. Respiratory complex I dysfunction due to mitochondrial DNA mutations shifts the voltage threshold for opening of the permeability transition pore toward resting levels. J Biol Chem 2009;284:2045-52
  • Oppenheim ML, Hargreaves IP, Pope S, et al. Mitochondrial cytochrome c release: a factor to consider in mitochondrial disease? J Inherit Metab Dis 2009;32:269-73
  • Navarro A, Boveris A. Mitochondrial nitric oxide synthase, mitochondrial brain dysfunction in aging, and mitochondria-targeted antioxidants. Adv Drug Deliv Rev 2008;60:1534-44
  • Tengan CH, Kiyomoto BH, Godinho RO, et al. The role of nitric oxide in muscle fibers with oxidative phosphorylation defects. Biochem Biophys Res Commun 2007;359:771-7
  • Khan SM, Smigrodzki RM, Swerdlow RH. Cell and animal models of mtDNA biology: progress and prospects. Am J Physiol Cell Physiol 2007;292:C658-69
  • King MP, Attardi G. Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 1989;246:500-3
  • Bayona-Bafaluy MP, Blits B, Battersby BJ, et al. Rapid directional shift of mitochondrial DNA heteroplasmy in animal tissues by a mitochondrially targeted restriction endonuclease. Proc Natl Acad Sci USA 2005;102:14392-7
  • Inoue K, Nakada K, Ogura A, et al. Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes. Nat Genet 2000;26:176-81
  • Longley MJ, Graziewicz MA, Bienstock RJ, et al. Consequences of mutations in human DNA polymerase gamma. Gene 2005;354:125-31
  • Nishigaki Y, Bonilla E, Shanske S, et al. Exercise-induced muscle ‘burning,’ fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNA(Gly). Neurology 2002;58:1282-5
  • Jeppesen TD, Schwartz M, Frederiksen AL, et al. Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation. Arch Neurol 2006;63:1701-6
  • Debray FG, Mitchell GA, Allard P, et al. Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis. Clin Chem 2007;53:916-21
  • Zhang Y, Yang YL, Sun F, et al. Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh-like syndrome. J Inherit Metab Dis 2007;30:265
  • Siciliano G, Volpi L, Piazza S, et al. Functional diagnostics in mitochondrial diseases. Biosci Rep 2007;27:53-67
  • Dysgaard Jeppesen T, Olsen D, Vissing J. Cycle ergometer is not a sensitive diagnostic test for mitochondrial myopathy. J Neurol 2003;250:293-9
  • Meulemans A, Gerlo E, Seneca S, et al. The aerobic forearm exercise test, a non-invasive tool to screen for mitochondrial disorders. Acta Neurol Belg 2007;107:78-83
  • Hanisch F, Eger K, Bork S, et al. Lactate production upon short-term non-ischemic forearm exercise in mitochondrial disorders and other myopathies. J Neurol 2006;253:735-40
  • Tarnopolsky M, Stevens L, MacDonald JR, et al. Diagnostic utility of a modified forearm ischemic exercise test and technical issues relevant to exercise testing. Muscle Nerve 2003;27:359-66
  • Morava E, Hogeveen M, De Vries M, et al. Normal serum alanine concentration differentiates transient neonatal lactic acidemia from an inborn error of energy metabolism. Biol Neonate 2006;90:207-9
  • Naini A, Kaufmann P, Shanske S, et al. Hypocitrullinemia in patients with MELAS: an insight into the ‘MELAS paradox’. J Neurol Sci 2005;229-230:187-93
  • Valentino ML, Martí R, Tadesse S, et al. Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). FEBS Lett 2007;581:3410-4
  • Lara MC, Valentino ML, Torres-Torronteras J, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches. Biosci Rep 2007;27:151-63
  • Martí R, Spinazzola A, Tadesse S, et al. Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays. Clin Chem 2004;50:120-24
  • Hirano M, Martí R, Casali C, et al. Allogenenic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology 2006;67:1458-60
  • Guy J, Shaw G, Ross-Cisneros FN, et al. Phosphorylated neurofilament heavy chain is a marker of neurodegeneration in Leber hereditary optic neuropathy (LHON). Mol Vis 2008;14:2443-50
  • Barshop BA. Metabolomic approaches to mitochondrial disease: correlation of urine organic acids. Mitochondrion 2004;4:521-7
  • Yano S, Li L, Le TP, et al. Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome. J Inherit Metab Dis 2003;26:481-88
  • Wortmann SB, Rodenburg RJ, Jonckheere A, et al. Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. Brain 2009;132:136-46
  • Bianchi MC, Sgandurra G, Tosetti M, et al. Brain magnetic resonance in the diagnostic evaluation of mitochondrial encephalopathies. Biosci Rep 2007;27:69-85
  • Kim J, Lee SK, Kim EY, et al. Neuroradiologic findings in children with mitochondrial disorder: correlation with mitochondrial respiratory chain defects. Eur Radiol 2008;18:1741-8
  • Olsen DB, Langkilde AR, Ørngreen MC, et al. Muscle structural changes in mitochondrial myopathy relate to genotype. J Neurol 2003;250:1328-34
  • Pillen S, Morava E, Van Keimpema M, et al. Skeletal muscle ultrasonography in children with a dysfunction in the oxidative phosphorylation system. Neuropediatrics 2006;37:142-7
  • Bianchi MC, Tosetti M, Battini R, et al. Proton MR spectroscopy of mitochondrial diseases: analysis of brain metabolic abnormalities and their possible diagnostic relevance. AJNR Am J Neuroradiol 2003;24:1958-66
  • Brockmann K, Bjornstad A, Dechent P, et al. Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency. Ann Neurol 2002;52:38-46
  • Jeppesen TD, Quistorff B, Wibrand F, et al. 31P-MRS of skeletal muscle is not a sensitive diagnostic test for mitochondrial myopathy. J Neurol 2007;254:29-37
  • Narla VV, Muthukrishnan A, Mountz JM. Diaschisis in cerebral mitochondrial disorder. Clin Nucl Med 2008;33:531-4
  • Lehnhardt FG, Horvath R, Ullrich R, et al. Altered cerebral glucose metabolism in a family with clinical features resembling mitochondrial neurogastrointestinal encephalomyopathy syndrome in association with multiple mitochondrial DNA deletions. Arch Neurol 2008;65:407-11
  • Lindroos MM, Majamaa K, Tura A, et al. The m.3243A>G mutation in mitochondrial DNA leads to decreased insulin sensitivity in skeletal muscle and to progressive {beta}-cell dysfunction. Diabetes 2009;58:543-9
  • Filosto M, Tomelleri G, Tonin P, et al. Neuropathology of mitochondrial diseases. Biosci Rep 2007;27:23-30
  • DiMauro S, Hirano M, Kaufmann P, et al. Clinical features and genetics of myoclonic epilepsy with ragged red fibers. In: Fahn S, Frucht SJ, editors, Myoclonus and Paroxysmal Dyskinesia. Philadelphia: Lippincott Williams & Wilkins 2002. p. 217-29
  • Yuri T, Kondo Y, Kohno K, et al. An autopsy case of chronic progressive external ophthalmoplegia with renal insufficiency. Med Mol Morphol 2008;41:233-7
  • Kyriacou K, Kyriakides T. Mitochondrial encephalomyopathies: a review of routine morphological diagnostic methods with emphasis on the role of electron microscopy. J Submicrosc Cytol Pathol 2006;38:201-8
  • McFarland R, Taylor RW, Turnbull DM. The neurology of mitochondrial DNA disease. Lancet Neurol 2002;1:343-51
  • Mancuso M, Petrozzi L, Filosto M, et al. MERRF syndrome without ragged-red fibers: the need for molecular diagnosis. Biochem Biophys Res Commun 2007;354:1058-60
  • Will Y, Hynes J, Ogurtsov VI, et al. Analysis of mitochondrial function using phosphorescent oxygen-sensitive probes. Nat Protoc 2006;1:2563-72
  • Shepherd RK, Checcarelli N, Naini A, et al. Measurement of ATP production in mitochondrial disorders. J Inherit Metab Dis 2006;29:86-91
  • Wortmann SB, Zweers-Van Essen H, Rodenburg RJ, et al. Mitochondrial energy production correlates with the age-related BMI. Pediatr Res 2009;65:103-8
  • Fornuskova D, Brantova O, Tesarova M, et al. The impact of mitochondrial tRNA mutations on the amount of ATP synthase differs in the brain compared to other tissues. Biochim Biophys Acta 2008;1782:317-25
  • Miles MV, Miles L, Tang PH, et al. Systematic evaluation of muscle coenzyme Q10 content in children with mitochondrial respiratory chain enzyme deficiencies. Mitochondrion 2008;8:170-80
  • DiMauro S, Mancuso M. Mitochondrial diseases: therapeutic approaches. Biosci Rep 2007;27:125-37
  • Lòpez LC, Schuelke M, Quinzii CM, et al. Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet 2006;79:1125-9
  • Mollet J, Giurgea I, Schlemmer D, et al. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest 2007;117:765-72
  • Quinzii CM, Naini A, Salviati L, et al. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet 2006;78:345-9
  • Gempel K, Topaloglu H, Talim B, et al. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain 2007;130:2037-44
  • Le Ber I, Dubourg O, Benoist JF, et al. Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1. Neurology 2007;68:295-7
  • Mollet J, Delahodde A, Serre V, et al. CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet 2008;82:623-30
  • Rotig A, Mollet J, Rio M, et al. Infantile and pediatric quinone deficiency diseases. Mitochondrion 2007;7:S112-21
  • Turunen M, Olsson J, Dallner G. Metabolism and function of coenzyme Q. Biochim Biophys Acta 2004;1660:171-99
  • Duncan AJ, Heales SJ, Mills K, et al. Determination of coenzyme Q10 status in blood mononuclear cells, skeletal muscle, and plasma by HPLC with di-propoxy-coenzyme Q10 as an internal standard. Clin Chem 2005;51:2380-2
  • Liu CS, Cheng WL, Lee CF, et al. Alteration in the copy number of mitochondrial DNA in leukocytes of patients with mitochondrial encephalomyopathies. Acta Neurol Scand 2006;113:334-41
  • Naccarati A, Molinu S, Mancuso M, et al. Cytogenetic damage in peripheral lymphocytes of mitochondrial disease patients. Neurol Sci 2000;21:S963-5
  • Migliore L, Molinu S, Naccarati A, et al. Evaluation of cytogenetic and DNA damage in mitochondrial disease patients: effects of coenzyme Q10 therapy. Mutagenesis 2004;19:43-9
  • Solaini G, Harris DA, Lenaz G, et al. The study of the pathogenic mechanism of mitochondrial diseases provides information on basic bioenergetics. Biochim Biophys Acta 2008;1777:941-5
  • Calvaruso MA, Smeitink J, Nijtmans L. Electrophoresis techniques to investigate defects in oxidative phosphorylation. Methods 2008;46:281-7
  • Capaldi RA, Murray J, Byrne L, et al. Immunological approaches to the characterization and diagnosis of mitochondrial disease. Mitochondrion 2004;4:417-26
  • Carrozzo R, Wittig I, Santorelli FM, et al. Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders. Ann Neurol 2006;59:265-75
  • Kin T, Sugie K, Hirano M, et al. Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia. J Hum Genet 2006;51:555-8
  • Kariya S, Hirano M, Furiya Y, et al. Humanin detected in skeletal muscles of MELAS patients: a possible new therapeutic agent. Acta Neuropathol 2005;109:367-72
  • Nakashima-Kamimura N, Asoh S, Ishibashi Y, et al. MIDAS/GPP34, a nuclear gene product, regulates total mitochondrial mass in response to mitochondrial dysfunction. J Cell Sci 2005;118:5357-67
  • Xie J, Techritz S, Haebel S, et al. A two-dimensional electrophoretic map of human mitochondrial proteins from immortalized lymphoblastoid cell lines: a prerequisite to study mitochondrial disorders in patients. Proteomics 2005;5:2981-99
  • Siciliano G, Pasquali L, Mancuso M, et al. Molecular diagnostics and mitochondrial dysfunction: a future perspective. Expert Rev Mol Diagn 2008;8:531-49
  • Schon EA, Naini A, Shanske S. Identification of mutations in mtDNA from patients suffering mitochondrial diseases. Methods Mol Biol 2002;197:55-74
  • Bai R-K, Wong L-JC. Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease. J Mol Diagn 2005;7:613-22
  • Spinazzola A, Zeviani M. Disorders of nuclear-mitochondrial intergenomic communication. Biosci Rep 2007;27:39-51
  • Hudson G, Amati-Bonneau P, Blakely EL, et al. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain 2008;131:329-37
  • Stewart JD, Hudson G, Yu-wai-man P, et al. Opa1 in multiple mitochondrial dna deletion disorders. Neurology 2008;71:1829-31
  • Bannwarth S, Procaccio V, Paquis-Flucklinger V. Rapid identification of unknown heteroplasmic mutations across the entire human mitochondrial genome with mismatch-specific Surveyor Nuclease. Nat Protoc 2006;1:2037-47
  • Bannwarth S, Procaccio V, Rouzier C, et al. Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy. Mitochondrion 2008;8:136-45
  • Tuppen HA, Fattori F, Carrozzo R, et al. Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations. J Med Genet 2008;45:55-61
  • Edwards JG. Quantification of mitochondrial DNA (mtDNA) damage and error rates by real-time QPCR. Mitochondrion 2009;9:31-5
  • Van Eijsden RG, Gerards M, Eijssen LM, et al. Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients. Genet Med 2006;8:620-7
  • Lee NC, Dimmock D, Hwu WL, et al. Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation. Arch Dis Child 2009;94:55-8
  • Prieto C, Risueño A, Fontanillo C, et al. Human gene coexpression landscape: confident network derived from tissue transcriptomic profiles. PLoS ONE 2008;3:e3911
  • Crimi M, Bordoni A, Menozzi G, et al. Skeletal muscle gene expression profiling in mitochondrial disorders. FASEB J 2005;19:866-8
  • Alemi M, Prigione A, Wong A, et al. Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript. Free Radic Biol Med 2007;42:32-43
  • van Eijsden R, Lars Eijssen L, Patrick Lindsey L, et al. Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A>G tRNALeu mutation. J Med Genet 2008;45:525-34
  • Danielson SR, Carelli V, Tan G, et al. Isolation of transcriptomal changes attributable to LHON mutations and the cybridization process. Brain 2005;128:1026-37
  • Kirby DM, Salemi R, Sugiana C, et al. NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. J Clin Invest 2004;114:837-45
  • Pagniez-Mammeri H, Lombes A, Brivet M, et al. Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects. Mol Genet Metab 2009;96:196-200
  • Kren BT, Wong PY, Sarver A, et al. MicroRNAs identified in highly purified liver-derived mitochondria may play a role in apoptosis. RNA Biol 2009;6:65-72
  • Chinnery P, Majamaa K, Turnbull D, et al. Treatment for mitochondrial disorders. Cochrane Database Syst Rev 2006;1:CD004426
  • Mootha VK, Lepage P, Miller K, et al. Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc Natl Acad Sci USA 2003;100:605-10
  • Cooks RG, Ouyang Z, Takats Z, et al. Detection technologies. Ambient mass spectrometry. Science 2006;311:1566-70

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