Pathology of skeletal muscle in mitochondrial disorders

Mitochondrion

Volumn 4, Issue 5-6 SPEC. ISS., 2004, Pages 441-452

  Bourgeois, J M ^a   Tarnopolsky, M A ^b  

^a MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

^b MCMASTER UNIVERSITY   (Canada)

Author keywords

COX negative fibers; Electron microscopy; Histology; Light microscopy; Mitochondria; Paracrystalline inclusion; Ragged red fibers; Ultrastructure

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE; SUCCINATE DEHYDROGENASE;

AGING; ARTICLE; ASPIRATION BIOPSY; ATHLETE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA DETERMINATION; ELECTRON MICROSCOPY; EMBEDDING; ENZYME ANALYSIS; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; INCLUSION BODY MYOSITIS; LEBER HEREDITARY OPTIC NEUROPATHY; MELAS SYNDROME; MERRF SYNDROME; MITOCHONDRIAL DNA DEPLETION SYNDROME; MUSCLE BIOPSY; MUSCLE TISSUE; PRIORITY JOURNAL; SKELETAL MUSCLE;

EID: 10644225224     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mito.2004.07.036     Document Type: Article

References (48)

1. A.L. Andreu M.G. Hanna H. Reichmann C. Bruno A.S. Penn K. Tanji F. Pallotti S. Iwata E. Bonilla B. Lach J. Morgan-Hughes S. DiMauro Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA N. Engl. J. Med. 341 1999 1037-1044
2. J. Bergstrom E. Hultman Glycogen content of skeletal muscle in patients with renal failure Acta Med. Scand. 186 1969 177-181
3. F.P. Bernier A. Boneh X. Dennett C.W. Chow M.A. Cleary D.R. Thorburn Diagnostic criteria for respiratory chain disorders in adults and children Neurology 59 2002 1406-1411
4. C. Bruno F.M. Santorelli S. Assereto E. Tonoli A. Tessa M. Traverso S. Scapolan M. Bado S. Tedeschi C. Minetti Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene Muscle Nerve 28 2003 508-511
5. E.E. Calore M.J. Cavaliere A. Wakamatsu N.M. Perez M.Y. Maeda D.H. Russo An unusual case of muscular limb-girdle dystrophy and mitochondrial myopathy Pathologica 86 1994 649-651
6. Y. Campos J. Gamez A. Garcia A.L. Andreu J.C. Rubio M.A. Martin P. del Hoyo C. Navarro C. Cervera R. Garesse J. Arenas A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy Neuromuscul. Disord. 11 2001 477-480
7. Y. Campos A. Garcia P. del Hoyo P. Jara M.A. Martin J.C. Rubio A. Berbel J.R. Barbera R. Ribacoba A. Astudillo A. Cabello J.R. Ricoy J. Arenas Two pathogenic mutations in the mitochondrial DNA tRNA Leu(UUR) gene (T3258C and A3280G) resulting in variable clinical phenotypes Neuromuscul. Disord. 13 2003 416-420
8. Z. Cao J. Wanagat S.H. McKiernan J.M. Aiken Mitochondrial DNA deletion mutations are concomitant with ragged red regions of individual, aged muscle fibers: Analysis by laser-capture microdissection Nucleic Acids Res. 29 2001 4502-4508
9. M.C. Dalakas I. Illa G.H. Pezeshkpour J.P. Laukaitis B. Cohen J.L. Griffin Mitochondrial myopathy caused by long-term zidovudine therapy N. Engl. J. Med. 322 1990 1098-1105
10. D.C. De Vivo The expanding clinical spectrum of mitochondrial diseases Brain Dev. 15 1993 1-22
11. V. Dubowitz Enzyme histochemistry of skeletal muscle J. Neurol. Neurosurg. Psychiatry 28 1965 516-524
12. V. Dubowitz Enzyme histochemistry of skeletal muscle. 3. Neurogenic muscular atrophies J. Neurol. Neurosurg. Psychiatry 29 1966 23-28
13. R. Edwards A. Young M. Wiles Needle biopsy of skeletal muscle in the diagnosis of myopathy and the clinical study of muscle function and repair N. Engl. J. Med. 302 1980 261-271
14. W.K. Engel G.G. Cunningham Rapid examination of muscle Tissue. An improved trichrome method for fresh-frozen biopsy sections Neurology 13 1963 919-923
15. M. Eppenberger-Eberhardt I. Riesinger M. Messerli P. Schwarb M. Muller H.M. Eppenberger T. Wallimann Adult rat cardiomyocytes cultured in creatine-deficient medium display large mitochondria with paracrystalline inclusions, enriched for creatine kinase J. Cell Biol. 113 1991 289-302
16. W.J. Evans S.D. Phinney V.R. Young Suction applied to a muscle biopsy maximizes sample size Med. Sci. Sports Exerc. 14 1982 101-102
17. S. Gambelli A. Malandrini F. Ginanneschi G. Berti E. Cardaioli R. De Stefano M. Franci C. Salvadori F. Mari M. Bruttini A. Rossi A. Federico A. Renieri Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy Eur. Neurol. 51 2004 144-147
18. R.W. Gilkerson D.H. Margineantu R.A. Capaldi J.M. Selker Mitochondrial DNA depletion causes morphological changes in the mitochondrial reticulum of cultured human cells Fed. Eur. Biochem. Soc. Lett. 474 2000 1-4
19. P.D. Greig J. Askanazi J.M. Kinney Needle biopsy of skeletal muscle using suction Surg. Gynecol. Obstet. 160 1985 466-468
20. R. Horvath K. Fu T. Johns A. Genge G. Karpati E.A. Shoubridge Characterization of the mitochondrial DNA abnormalities in the skeletal muscle of patients with inclusion body myositis J. Neuropathol. Exp. Neurol. 57 1998 396-403
21. E. Hultman J. Bergstrom Muscle glycogen synthesis in relation to diet studied in normal subjects Acta Med. Scand. 182 1967 109-117
22. H.T. Jacobs The mitochondrial theory of aging: Dead or alive? Aging Cell 2 2003 11-17
23. T.D. Jeppesen M. Schwartz D.B. Olsen J. Vissing Oxidative capacity correlates with muscle mutation load in mitochondrial myopathy Ann. Neurol. 54 2003 86-92
24. D. Lacomis The use of percutaneous needle muscle biopsy in the diagnosis of myopathy Curr. Rheumatol. Rep. 2 2000 225-229
25. S. Lindal I. Lund T. Torbergsen J. Aasly S.I. Mellgren O. Borud P. Monstad Mitochondrial diseases and myopathies: A series of muscle biopsy specimens with ultrastructural changes in the mitochondria Ultrastruct. Pathol. 16 1992 263-275
26. A. Lindner E. Hofmann M. Naumann G. Becker H. Reichmann Clinical, morphological, biochemical, and neuroradiological features of mitochondrial encephalomyopathies. Presentation of 19 patients Mol. Cell Biochem. 174 1997 297-303
27. G.S. Lynch D.G. Stephenson D.A. Williams Muscle samples obtained by needle biopsy are suitable for studying single fibre contractile properties Acta Physiol. Scand. 148 1993 27-35
28. M.R. Magistris A. Kohler G. Pizzolato M.A. Morris A. Baroffio L. Bernheim C.R. Bader Needle muscle biopsy in the investigation of neuromuscular disorders Muscle Nerve 21 1998 194-200
29. M. Mancuso L. Salviati S. Sacconi D. Otaegui P. Camano A. Marina S. Bacman C.T. Moraes J.R. Carlo M. Garcia M. Garcia-Alvarez L. Monzon A.B. Naini M. Hirano E. Bonilla A.L. Taratuto S. DiMauro T.H. Vu Mitochondrial DNA depletion: Mutations in thymidine kinase gene with myopathy and SMA Neurology 59 2002 1197-1202
30. M. Mancuso M. Filosto E. Bonilla M. Hirano S. Shanske T.H. Vu S. DiMauro Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene Arch. Neurol. 60 2003 1007-1009
31. H.J. Manz Pathology of skeletal muscle: Principles of reaction patterns and histochemistry and experience with 195 biopsies Virchows Arch. A Pathol. Anat. Histol. 386 1980 1-19
32. J. Muller-Hocker Cytochrome c oxidase deficient fibres in the limb muscle and diaphragm of man without muscular disease: An age-related alteration J. Neurol. Sci. 100 1990 14-21
33. Y. Nevo D. Soffer M. Kutai N. Zelnik A. Saada J. Jossiphov G. Messer A. Shaag E. Shahar S. Harel O. Elpeleg Clinical characteristics and muscle pathology in myopathic mitochondrial DNA depletion J. Child Neurol. 17 2002 499-504
34. Y. Nishigaki S. Tadesse E. Bonilla D. Shungu S. Hersh B.J. Keats C.I. Berlin M.F. Goldberg J. Vockley S. DiMauro M. Hirano A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome Neuromuscul Disord. 13 2003 334-340
35. K.S. O'Rourke M. Blaivas R.W. Ike Utility of needle muscle biopsy in a university rheumatology practice J. Rheumatol. 21 1994 413-424
36. M. Ozawa I. Nonaka Y. Goto Single muscle fiber analysis in patients with 3243 mutation in mitochondrial DNA: Comparison with the phenotype and the proportion of mutant genome J. Neurol. Sci. 159 1998 170-175
37. R. Pamphlett C. Harper N. Tan B.A. Kakulas Needle muscle biopsy: Will it make open biopsy obsolete? Aust. N Z J. Med. 15 1985 199-202
38. R. Pauzner I. Blatt M. Mouallem E. Ben-David Z. Farfel M. Sadeh Mitochondrial abnormalities in oculopharyngeal muscular dystrophy Muscle Nerve 14 1991 947-952
39. V. Petruzzella C.T. Moraes M.C. Sano E. Bonilla S. DiMauro E.A. Schon Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243 Hum. Mol. Genet. 3 1994 449-454
40. P.S. Phillips R.H. Haas S. Bannykh S. Hathaway N.L. Gray B.J. Kimura G.D. Vladutiu J.D. England Statin-associated myopathy with normal creatine kinase levels Ann. Intern. Med. 137 2002 581-585
41. Z. Rifai S. Welle C. Kamp C.A. Thornton Ragged red fibers in normal aging and inflammatory myopathy Ann. Neurol. 37 1995 24-29
42. G. Silvestri M. Rana F. Odoardi A. Modoni E. Paris M. Papacci P. Tonali S. Servidei Single-fiber PCR in MELAS(3243) patients: Correlations between intratissue distribution and phenotypic expression of the mtDNA(A3243G) genotype Am. J. Med. Genet. 94 2000 201-206
43. O. Stachowiak M. Dolder T. Wallimann C. Richter Mitochondrial creatine kinase is a prime target of peroxynitrite-induced modification and inactivation J. Biol. Chem. 273 1998 16694-16699
44. M. Tarnopolsky L. Stevens J.R. MacDonald C. Rodriguez D. Mahoney J. Rush J. Maguire Diagnostic utility of a modified forearm ischemic exercise test and technical issues relevant to exercise testing Muscle Nerve 27 2003 359-366
45. M.A. Tarnopolsky S.K. Baker T. Myint C.E. Maxner J. Robitaille B.H. Robinson Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation Am J Med Genet. 124A 2004 372-376
46. M.A. Tarnopolsky J.M. Bourgeois M.H. Fu G. Kataeva J. Shah D.K. Simon D. Mahoney D. Johns N. MacKay B.H. Robinson Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype Am. J. Med. Genet. 125A 2004 310-314
47. I. Tein Role of carnitine and fatty acid oxidation and its defects in infantile epilepsy J. Child Neurol. 17 Supp 3 2002 S57-S83 discussion 53S82-83
48. H. Vogel Mitochondrial myopathies and the role of the pathologist in the molecular era J. Neuropathol. Exp. Neurol. 60 2001 217-227