Mutation-specific effects on thin filament length in thin filament myopathy

Annals of Neurology

Volumn 79, Issue 6, 2016, Pages 959-969

  Winter, Josine M De ^a   Joureau, Barbara ^a   Lee, Eun Jeong ^b   Kiss, Balázs ^b   Yuen, Michaela ^c,d   Gupta, Vandana A ^e   Pappas, Christopher T ^b   Gregorio, Carol C ^b   Stienen, Ger J M ^a,f   Edvardson, Simon ^g   Wallgren Pettersson, Carina ^h,i   Lehtokari, Vilma Lotta ^h,i   Pelin, Katarina ^i,j   Malfatti, Edoardo ^k   Romero, Norma B ^k   Engelen, Baziel G Van ^l   Voermans, Nicol C ^l   Donkervoort, Sandra ^m   Bonnemann C G ^m   Clarke, Nigel F ^c,d   Beggs, Alan H ^e   Granzier, Henk ^b   Ottenheijm, Coen A C ^a,b   more..

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^d UNIVERSITY OF SYDNEY   (Australia)

^e BOSTON CHILDREN S HOSPITAL   (United States)

^f VU UNIVERSITY AMSTERDAM   (Netherlands)

^g HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^h UNIVERSITY OF HELSINKI   (Finland)

ⁱ BIOMEDICUM HELSINKI   (Finland)

^j UNIVERSITY OF HELSINKI   (Finland)

^k PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^l RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^m NATIONAL INSTITUTES OF HEALTH   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA ACTIN1; ALPHA TROPOMYOSIN 3; BETA TROPOMYOSIN 2; KELCH REPEAT AND BTB DOMAIN CONTAINING 13; KELCHLIKE FAMILY MEMBER 40; KELCHLIKE FAMILY MEMBER 41; NEBULIN; PROTEIN; TROPONIN T TYPE 1; UNCLASSIFIED DRUG; ACTIN; MUSCLE PROTEIN;

ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONGENITAL DISORDER; CONTROLLED STUDY; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; KNOCKOUT MOUSE; MOUSE; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE CONTRACTILITY; MUSCLE LENGTH; MYOFILAMENT; MYOPATHY; NONHUMAN; PRIORITY JOURNAL; SARCOMERE; SARCOMERE LENGTH; SKELETAL MUSCLE; THIN FILAMENT; THIN FILAMENT MYOPATHY; ANIMAL; CASE CONTROL STUDY; CYTOSKELETON; GENETICS; METABOLISM; MUSCLE CONTRACTION; MUSCLE DISEASE; MUTATION; PATHOPHYSIOLOGY; PHYSIOLOGY;

ACTINS; ANIMALS; CASE-CONTROL STUDIES; CYTOSKELETON; HUMANS; MICE, KNOCKOUT; MUSCLE CONTRACTION; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; SARCOMERES;

EID: 84964678032     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24654     Document Type: Article

References (37)

1. Colombo I, Scoto M, Manzur AY, et al., Congenital myopathies: natural history of a large pediatric cohort. Neurology 2015; 84: 28-35.
2. Sanoudou D, Beggs AH,. Clinical and genetic heterogeneity in nemaline myopathy-a disease of skeletal muscle thin filaments. Trends Mol Med 2001; 7: 362-368.
3. Sambuughin N, Yau KS, Olivé M, et al., Dominant mutations in KBTBD13, a member of the BTB/kelch family, cause nemaline myopathy with cores. Am J Hum Genet 2010; 87: 842-847.
4. Ravenscroft G, Miyatake S, Lehtokari V-L, et al., Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet 2013; 93: 6-18.
5. Gupta VA, Ravenscroft G, Shaheen R, et al., Identification of KLHL41 mutations implicates BTB-kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy. Am J Hum Genet 2013; 93: 1108-1117.
6. Yuen M, Sandaradura SA, Dowling JJ, et al., Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest 2014; 124: 4693-4708.
7. Littlefield R, Fowler VM,. Measurement of thin filament lengths by distributed deconvolution analysis of fluorescence images. Biophys J 2002; 82: 2548-2564.
8. Gordon AM, Huxley AF, Julian FJ,. The variation in isometric tension with sarcomere length in vertebrate muscle fibres. J Physiol 1966; 184: 170-192.
9. Granzier HL, Akster HA, Ter Keurs HE,. Effect of thin filament length on the force-sarcomere length relation of skeletal muscle. Am J Physiol 1991; 260 (5 pt 1): C1060-C1070.
10. Witt CC, Burkart C, Labeit D, et al., Nebulin regulates thin filament length, contractility, and Z-disk structure in vivo. EMBO J 2006; 25: 3843-3855.
11. Bang M-L, Li X, Littlefield R, et al., Nebulin-deficient mice exhibit shorter thin filament lengths and reduced contractile function in skeletal muscle. J Cell Biol 2006; 173: 905-916.
12. Ottenheijm CAC, Buck D, de Winter JM, et al., Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy. Brain 2013; 136 (pt 6): 1718-1731.
13. Ottenheijm CAC, Witt CC, Stienen GJ, et al., Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency. Hum Mol Genet 2009; 18: 2359-2369.
14. Ochala J, Lehtokari V-L, Iwamoto H, et al., Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy. FASEB J 2011; 25: 1903-1913.
15. de Winter JM, Joureau B, Sequeira V, et al., Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene. Skelet Muscle 2015; 5: 12.
16. Malfatti E, Lehtokari V-L, Böhm J, et al., Muscle histopathology in nebulin-related nemaline myopathy: ultrastructural findings correlated to disease severity and genotype. Acta Neuropathol Commun 2014; 2: 44.
17. Warren CM, Krzesinski PR, Greaser ML,. Vertical agarose gel electrophoresis and electroblotting of high-molecular-weight proteins. Electrophoresis 2003; 24: 1695-1702.
18. Li F, Buck D, De Winter J, et al., Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy. Hum Mol Genet 2015; 24: 5219-5233.
19. Lyons G, Muhlebach S, Moser A, et al., Developmental regulation of creatine kinase gene expression by myogenic factors in embryonic mouse and chick skeletal muscle. Development 1991; 113: 1017-1029.
20. Udaka J, Ohmori S, Terui T, et al., Disuse-induced preferential loss of the giant protein titin depresses muscle performance via abnormal sarcomeric organization. J Gen Physiol 2008; 131: 33-41.
21. Cromie MJ, Sanchez GN, Schnitzer MJ, Delp SL,. Sarcomere lengths in human extensor carpi radialis brevis measured by microendoscopy. Muscle Nerve 2013; 48: 286-292.
22. Nowak KJ, Davis MR, Wallgren-Pettersson C, et al., Clinical utility gene card for: nemaline myopathy-update 2015. Eur J Hum Genet 2015; 23.
23. Ottenheijm CAC, Hooijman P, DeChene ET, et al., Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2). J Struct Biol 2010; 170: 334-343.
24. Gineste C, Duhamel G, Le Fur Y, et al., Multimodal MRI and (31)P-MRS investigations of the ACTA1(Asp286Gly) mouse model of nemaline myopathy provide evidence of impaired in vivo muscle function, altered muscle structure and disturbed energy metabolism. PLoS One 2013; 8: e72294.
25. Gineste C, Le Fur Y, Vilmen C, et al., Combined MRI and 31P-MRS investigations of the ACTA1(H40Y) mouse model of nemaline myopathy show impaired muscle function and altered energy metabolism. PLoS One 2013; 8: e61517.
26. Ottenheijm CAC, Lawlor MW, Stienen GJM, et al., Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy. Hum Mol Genet 2011; 20: 2015-2025.
27. Mokbel N, Ilkovski B, Kreissl M, et al., K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity. Brain 2013; 136: 494-507.
28. Yuen M, Cooper ST, Marston SB, et al., Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. Hum Mol Genet 2015; 24: 6278-6292.
29. Van Dyke JM, Bain JLW, Riley DA,. Stretch-activated signaling is modulated by stretch magnitude and contraction. Muscle Nerve 2014; 49: 98-107.
30. Yang H, Alnaqeeb M, Simpson H, Goldspink G,. Changes in muscle fibre type, muscle mass and IGF-I gene expression in rabbit skeletal muscle subjected to stretch. J Anat 1997; 190 (pt 4): 613-622.
31. Van Dyke JM, Bain JLW, Riley DA,. Preserving sarcomere number after tenotomy requires stretch and contraction. Muscle Nerve 2012; 45: 367-375.
32. Riley DA, Van Dyke JM,. The effects of active and passive stretching on muscle length. Phys Med Rehabil Clin N Am 2012; 23: 51-57.
33. de Winter JM, Buck D, Hidalgo C, et al., Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations. J Med Genet 2013; 50: 383-392.
34. Gordon AM, Homsher E, Regnier M,. Regulation of contraction in striated muscle. Physiol Rev 2000; 80: 853-924.
35. Ottenheijm CAC, Granzier H,. Lifting the nebula: novel insights into skeletal muscle contractility. Physiology 2010; 25: 304-310.
36. Agrawal PB, Joshi M, Savic T, et al., Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance. Hum Mol Genet 2012; 21: 2341-2356.
37. Gupta VA, Beggs AH,. Kelch proteins: emerging roles in skeletal muscle development and diseases. Skelet Muscle 2014; 4: 11.