A myopathy-related actin mutation increases contractile function

Acta Neuropathologica

Volumn 123, Issue 5, 2012, Pages 739-746

  Lindqvist, Johan ^a   Pénisson Besnier, Isabelle ^b   Iwamoto, Hiroyuki ^c   Li, Meishan ^a   Yagi, Naoto ^c   Ochala, Julien ^a  

^a UPPSALA UNIVERSITY   (Sweden)

^b ANGERS UNIVERSITY HOSPITAL   (France)

^c JAPAN SYNCHROTRON RADIATION RESEARCH INSTITUTE   (Japan)

Author keywords

ACTA1 mutation; Actin; Force; Myosin cross bridge; Nemaline myopathy; Skeletal muscle

Indexed keywords

ACTIN; ALPHA ACTIN; MYOSIN; MYOSIN ADENOSINE TRIPHOSPHATASE; NEBULIN; TROPOMYOSIN;

ACTA1 GENE; ADULT; ARTICLE; CELL STRUCTURE; GENE; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; ISOMETRICS; MALE; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE CONTRACTION; MUSCLE FORCE; MYOPATHY; NEB GENE; NEMALINE MYOPATHY; PRIORITY JOURNAL; PROTEIN EXPRESSION; STEADY STATE; TPM2 GENE; TPM3 GENE; X RAY DIFFRACTION;

ACTINS; HUMANS; MALE; MIDDLE AGED; MUSCLE CONTRACTION; MUSCLE FIBERS, SKELETAL; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, NEMALINE; MYOSIN HEAVY CHAINS; PHYSICAL STIMULATION; X-RAY DIFFRACTION;

EID: 84862803390     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-012-0962-z     Document Type: Article

References (24)

1. BrennerB(1988) Effect of Ca2 + on cross-bridge turnover kinetics in skinned single rabbit psoas fibers: implications for regulation of muscle contraction. Proc Natl Acad Sci USA 85(9):3265-3269
2. Brenner B, Eisenberg E (1986) Rate of force generation in muscle: correlation with actomyosin ATPase activity in solution. Proc Natl Acad Sci USA 83(10):3542-3546 (Pubitemid 16043071)
3. Cooke R, Franks K (1980) All myosin heads form bonds with actin in rigor rabbit skeletal muscle. Biochemistry 19(10):2265-2269 (Pubitemid 10045271)
4. Edman KA (1979) The velocity of unloaded shortening and its relation to sarcomere length and isometric force in vertebrate muscle fibres. J Physiol 291:143-159 (Pubitemid 9193949)
5. Feng JJ, Marston S (2009) Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies. Neuromuscul Disord 19(1):6-16
6. Frontera WR, Larsson L (1997) Contractile studies of single human skeletal muscle fibers: a comparison of different muscles, permeabilization procedures, and storage techniques. Muscle Nerve 20(8):948-952 (Pubitemid 27306505)
7. Huxley AF (1957) Muscle structure and theories of contraction. Prog Biophys Biophys Chem 7:255-318
8. Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S, Winder TL, Lochmuller H, Graziano C, Mitrani- Rosenbaum S, Twomey D, Sparrow JC, Beggs AH, Nowak KJ (2009) Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat 30(9):1267-1277
9. Li M, Larsson L (2011) Force-generating capacity of human myosin isoforms extracted from single muscle fibre segments. J Physiol 588:5105-5114
10. LiXE,TobacmanLS,Mun JY,CraigR,Fischer S, LehmanW(2011) Tropomyosin position on F-actin revealed by EMreconstruction and computational chemistry. Biophys J 100(4):1005-1013
11. Lorenz M, Holmes KC (2011) The actin-myosin interface. Proc Natl Acad Sci USA 107(28):12529-12534
12. Marston S, Mirza M, Abdulrazzak H, Sewry C (2004) Functional characterisation of a mutant actin (Met132Val) from a patient with nemaline myopathy. Neuromuscul Disord 14(2):167-174 (Pubitemid 38083327)
13. Moss RL, Razumova M, Fitzsimons DP (2004) Myosin crossbridge activation of cardiac thin filaments: implications for myocardial function in health and disease. Circ Res 94(10):1290-1300 (Pubitemid 38724474)
14. Ochala J, Iwamoto H, Larsson L, Yagi N (2010) A myopathylinked tropomyosin mutation severely alters thin filament conformational changes during activation. Proc Natl Acad Sci USA 107(21):9807-9812
15. Ochala J, LehtokariVL, IwamotoH, LiM, Feng HZ, Jin JP, Yagi N, Wallgren-Pettersson C, Penisson-Besnier I, Larsson L (2011) Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy. FASEB J 25(6):1903-1913
16. Ochala J, Li M, Ohlsson M, Oldfors A, Larsson L (2008) Defective regulation of contractile function in muscle fibres carrying an E41 K beta-tropomyosin mutation. J Physiol 586:2993-3004 (Pubitemid 351837290)
17. Ottenheijm CA, Lawlor MW, Stienen GJ, Granzier H, Beggs AH (2011) Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy. Hum Mol Genet 20(10):2015-2025
18. Ottenheijm CA, Witt CC, Stienen GJ, Labeit S, Beggs AH, Granzier H (2009) Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency. Hum Mol Genet 18(13):2359-2369
19. Pardee JD, Spudich JA (1982) Purification of muscle actin. Methods Cell Biol 24:271-289 (Pubitemid 12055905)
20. Penisson-Besnier I, Monnier N, Toutain A, Dubas F, Laing N (2007) A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study. Neuromuscul Disord 17(4):330-337 (Pubitemid 46528708)
21. Pettersen EF, Goddard TD, Huang CC, Couch GS, Greenblatt DM, Meng EC, Ferrin TE (2004) UCSF Chimera: a visualization system for exploratory research and analysis. J Comput Chem 25(13):1605-1612
22. Ravenscroft G, Jackaman C, Bringans S, Papadimitriou JM, Griffiths LM, McNamara E, Bakker AJ, Davies KE, Laing NG, Nowak KJ (2011) Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies. Brain 134:1101-1115
23. Sambuughin N, Yau KS, Olive M, Duff RM, Bayarsaikhan M, Lu S, Gonzalez-Mera L, Sivadorai P, Nowak KJ, Ravenscroft G, Mastaglia FL, North KN, Ilkovski B, Kremer H, Lammens M, van Engelen BG, Fabian V, Lamont P, Davis MR, Laing NG, Goldfarb LG (2010) Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am J Hum Genet 87(6):842-847
24. Sanoudou D, Beggs AH (2001) Clinical and genetic heterogeneity in nemaline myopathy-a disease of skeletal muscle thin filaments. Trends Mol Med 7(8):362-368 (Pubitemid 32735022)