Mitochondrial abnormalities in myofibrillar myopathies

Clinical Neuropathology

Volumn 33, Issue 2, 2014, Pages 134-142

  Joshi, Pushpa R ^a   Hauburger, Anja ^a   Kley, Rudolf ^b   Claeys, Kristl G ^c,f   Schneider, Ilka ^a   Kress, Wolfram ^d   Stoltenburg, Gisela ^a,e   Weis, Joachim ^c   Vorgerd, Matthias ^b   Deschauer, Marcus ^a   Hanisch, Frank ^a  

^a MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^b RUHR UNIVERSITY BOCHUM   (Germany)

^c RWTH AACHEN UNIVERSITY   (Germany)

^d UNIVERSITY OF WÜRZBURG   (Germany)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^f UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

Author keywords

Coxdeficient fibers; Long range PCR; Mitochondria; Multiple deletions; Myofibrillar myopathy

Indexed keywords

ADULT; AGED; CONNECTIN; DNA; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; ELECTRON TRANSPORT COMPLEX IV; FEMALE; GENE DELETION; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MICRODISSECTION; MIDDLE AGED; MITOCHONDRIA, MUSCLE; MUSCLE FIBERS, SKELETAL; MYOPATHIES, STRUCTURAL, CONGENITAL; POLYMERASE CHAIN REACTION;

EID: 84894347621     PISSN: 07225091     EISSN: None     Source Type: Journal    
DOI: 10.5414/NP300693     Document Type: Article

References (26)

1. Olivé M, van Leeuwen FW, Janué A, Moreno D, Torrejón-Escribano B, Ferrer I. Expression of mutant ubiquitin (UBB+1) and p62 in myotilinopathies and desminopathies. Neuropathol Appl Neurobiol. 2008; 34: 76-87
2. Kley RA, Serdaroglu-Oflazer P, Leber Y, Odgerel Z, van der Ven PFM, Olivé M, Ferrer I, Onipe A, Mihaylov M, Bilbao JM, Lee HS, Höhfeld J, Djinović-Carugo K, Kong K, Tegenthoff M, Peters SA, Stenzel W, Vorgerd M, Goldfarb LG, Fürst DO. Pathophysiology of protein aggregation and extended phenotyping in filaminopathy. Brain. 2012; 135: 2642-2660
3. Claeys KG, van der Ven PFM, Behin A, Stojkovic T, Eymard B, Dubourg O, Laforêt P, Faulkner G, Richard P, Vicart P, Romero NB, Stoltenburg G, Udd B, Fardeau M, Voit T, Fürst DO. Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. Acta Neuropathol. 2009; 117: 293-307
4. Reimann J, Kunz WS, Vielhaber S, Kappes-Horn K, Schröder R. Mitochondrial dysfunction in myofibrillar myopathy. Neuropathol Appl Neurobiol. 2003; 29: 45-51
5. Milner DJ, Mavroidis M, Weisleder N, Capetanaki Y. Desmin cytoskeleton linked to muscle mitochondrial distribution and respiratory function. J Cell Biol. 2000; 150: 1283-1298
6. Kraya T, Kress W, Stoevesant D, Deschauer M, Zierz S. Myofibrilläre Myopathie bei ZASP-Mutation Ala147Thr: Zwei Fälle mit rein distalem Phänotyp der Beine. Nervenarzt. 2013; 84: 209-213
7. Gellerich FN, Deschauer M, Chen Y, Müller T, Neudecker S, Zierz S. Mitochondrial respiratory rates and activities of respiratory chain complexes correlate linearly with heteroplasmy of deleted mtDNA without threshold and independently of deletion size. Biochim Biophys Acta. 2002; 1556: 41-52
8. Krasnianski A, Deschauer M, Neudecker S, Gellerich FN, Müller T, Schoser BG, Krasnianski M, Zierz S. Mitochondrial changes in skeletal muscle in amyotrophic lateral sclerosis and other neurogenic atrophies. Brain. 2005; 128: 1870-1876
9. Deschauer M, Kiefer R, Blakely EL, He L, Zierz S, Turnbull DM, Taylor RW. A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia. Neuromuscul Disord. 2003; 13: 568-572
10. Campbell GR, Ziabreva I, Reeve AK, Krishnan KJ, Reynolds R, Howell O, Lassmann H, Turnbull DM, Mahad DJ. Mitochondrial DNA deletions and neurodegeneration in multiple sclerosis. Ann Neurol. 2011; 69: 481-492
11. Oldfors A, Larsson NG, Lindberg C, Holme E. Mitochondrial DNA deletions in inclusion body myositis. Brain. 1993; 116: 325-336
12. Chariot P, Ruet E, Authier FJ, Labes D, Poron F, Gherardi R. Cytochrome c oxidase deficiencies in the muscle of patients with inflammatory myopathies. Acta Neuropathol. 1996; 91: 530-536
13. Alhatou MI, Sladky JT, Bagasra O, Glass JD. Mitochondrial abnormalities in dermatomyositis: characteristic pattern of neuropathology. J Mol Histol. 2004; 35: 615-619
14. Trounce I, Byrne E, Marzuki S. Decline in skeletal muscle mitochondrial respiratory chain function: possible factor in ageing. Lancet. 1989; 1: 637-639
15. Dalakas MC. Polymyositis, dermatomyositis and inclusion-body myositis. N Engl J Med. 1991; 325: 1487-1498
16. Herbst A, Pak JW, McKenzie D, Bua E, Bassiouni M, Aiken JM. Accumulation of mitochondrial DNA deletion mutations in aged muscle fibers: evidence for a causal role in muscle fiber loss. J Gerontol A Biol Sci Med Sci. 2007; 62: 235-245
17. Claeys KG, Fardeau M, Schröder R, Suominen T, Tolksdorf K, Behin A, Dubourg O, Eymard B, Maisonobe T, Stojkovic T, Faulkner G, Richard P, Vicart P, Udd B, Voit T, Stoltenburg G. Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene. Neuromuscul Disord. 2008; 18: 656-666
18. Dubowitz V, Sewry CA. Muscle Biopsy: A Practical Approach. Saunders Elsevier; 2007.
19. Schröder R, Schoser B. Myofibrillar myopathies: a clinical and myopathological guide. Brain Pathol. 2009; 19: 483-492
20. Konieczny P, Wiche G. Muscular integrity--a matter of interlinking distinct structures via plectin. Adv Exp Med Biol. 2008; 642: 165-175
21. Schröder R, Warlo I, Herrmann H, van der Ven PF, Klasen C, Blümcke I, Mundegar RR, Fürst DO, Goebel HH, Magin TM. Immunogold EM reveals a close association of plectin and the desmin cytoskeleton in human skeletal muscle. Eur J Cell Biol. 1999; 78: 288-295
22. Oldfors A, Moslemi AR, Jonasson L, Ohlsson M, Kollberg G, Lindberg C. Mitochondrial abnormalities in inclusion-body myositis. Neurology. 2006; 66 (Suppl 1): S49-S55
23. Joshi PR, Tacik P, Nikolin S, Weis J, Deschauer M, Zierz S. Analysis of mtDNA deletions in patients with different forms of idiopathic myositis. Neuromuscul Disord. 2009; 19: 654
24. Aiken CT, Kaake RM, Wang X, Huang L. Oxidative stress-mediated regulation of proteasome complexes. Mol Cell Proteomics. 2011; 10: R110.006924.
25. Terman A, Gustafsson B, Brunk UT. The lysosomalmitochondrial axis theory of postmitotic aging and cell death. Chem Biol Interact. 2006; 163: 29-37
26. Rodenburg RJ. Biochemical diagnosis of mitochondrial disorders. J Inherit Metab Dis. 2011; 34: 283-292