Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies

Brain

Volumn 136, Issue 2, 2013, Pages 508-521

  Davidson, Ann E ^a   Siddiqui, Fazeel M ^b   Lopez, Michael A ^a   Lunt, Peter ^c   Carlson, Heather A ^d   Moore, Brian E ^b   Love, Seth ^e   Born, Donald E ^f   Roper, Helen ^g   Majumdar, Anirban ^h   Jayadev, Suman ^f   Underhill, Hunter R ⁱ   Smith, Corrine O ^f   Von Der Hagen, Maja ^j   Hubner, Angela ^j   Jardine, Philip ^k   Merrison, Andria ^h   Curtis, Elizabeth ^l   Cullup, Thomas ^m   Jungbluth, Heinz ⁿ   Cox, Mary O ^o   Winder, Thomas L ^p   Abdel Salam, Hossam ^b   Li, Jun Z ^q   Moore, Steven A ^o   Dowling, James J ^a,q   more..

^a UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^b SOUTHERN ILLINOIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY HOSPITALS BRISTOL NHS FOUNDATION TRUST   (United Kingdom)

^d UNIVERSITY OF MICHIGAN   (United States)

^e UNIVERSITY OF BRISTOL   (United Kingdom)

^f UNIVERSITY OF WASHINGTON   (United States)

^g BIRMINGHAM HEARTLANDS HOSPITAL   (United Kingdom)

^h FRENCHAY HOSPITAL   (United Kingdom)

ⁱ UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^j UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^k BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^l UNIVERSITY HOSPITALS BIRMINGHAM NHS FOUNDATION TRUST   (United Kingdom)

^m GUY S HOSPITAL   (United Kingdom)

ⁿ ST THOMAS HOSPITAL   (United Kingdom)

^o UNIVERSITY OF IOWA   (United States)

^p Prevention Genetics   (United States)

^q UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

more..

Author keywords

muscle and nerve pathology; mutation; myopathies; nemaline; neuromuscular disorders

Indexed keywords

BETA TROPOMYOSIN; LYSINE; LYSINE 7; TROPOMYOSIN; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ARTHROGRYPOSIS; ARTICLE; ATROPHY; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CONTRACTURE; DISTAL MYOPATHY; EXOME; FEMALE; GAIT DISORDER; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; HAPLOTYPE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VIVO STUDY; MALE; MUSCLE; MUSCLE BIOPSY; MYOPATHY; NEMALINE MYOPATHY; NONHUMAN; POLYMERIZATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; QUADRICEPS FEMORIS MUSCLE; SARCOMERE LENGTH; SCHOOL CHILD; THIN FILAMENT; WEAKNESS; WESTERN BLOTTING; ZEBRA FISH;

EID: 84874321652     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aws344     Document Type: Article

References (46)

1. Agrawal PB, Greenleaf RS, Tomczak KK, Lehtokari VL, Wallgren-Pettersson C, Wallefeld W, et al. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet 2007; 80: 162-7.
2. Amburgey K, McNamara N, Bennett LR, McCormick ME, Acsadi G, Dowling JJ. Prevalence of congenital myopathies in a representative pediatric united states population. Ann Neurol 2011; 70: 662-5.
3. Anderson LV, Davison K. Multiplex western blotting system for the analysis of muscular dystrophy proteins. Am J Pathol 1999; 154: 1017-22.
4. Bamshad M, Van Heest AE, Pleasure D. Arthrogryposis: a review and update. J Bone Joint Surg Am 2009; 91 (Suppl 4): 40-6.
5. Clarke NF, Domazetovska A, Waddell L, Kornberg A, McLean C, North KN. Cap disease due to mutation of the beta-tropomyosin gene (TPM2). Neuromuscul Disord 2009; 19: 348-51.
6. Donner K, Ollikainen M, Ridanpaa M, Christen HJ, Goebel HH, de Visser M, et al. Mutations in the beta-tropomyosin (TPM2) gene-a rare cause of nemaline myopathy. Neuromuscul Disord 2002; 12: 151-8.
7. Dowling JJ, Arbogast S, Hur J, Nelson DD, McEvoy A, Waugh T, et al. Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy. Brain 2012; 135 (Pt 4): 1115-27.
8. Dowling JJ, Vreede AP, Low SE, Gibbs EM, Kuwada JY, Bonnemann CG, et al. Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. PLoS Genet 2009; 5: e1000372.
9. Engel A, Franzini-Armstrong C. Myology: basic and clinical. 3rd edn. New York: McGraw-Hill, Medical Pub. Division; 2004.
10. Hecht F, Beals RK. Inability to open the mouth fully: an autosomal dominant phenotype with facultative campylodactyly and short stature. Birth Defects 1969; 5: 96-8.
11. Hernandez-Lain A, Husson I, Monnier N, Farnoux C, Brochier G, Lacene E, et al. De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins. Eur J Med Genet 2011; 54: 29-33.
12. Hitchcock-DeGregori SE, Heald RW. Altered actin and troponin binding of amino-terminal variants of chicken striated muscle alpha-tropomyosin expressed in Escherichia coli. J Biol Chem 1987; 262: 9730-5.
13. Ilkovski B, Mokbel N, Lewis RA, Walker K, Nowak KJ, Domazetovska A, et al. Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy. J Neuropathol Exp Neurol 2008; 67: 867-77.
14. Jones HR, De Vivo DC, Darras BT. Neuromuscular disorders of infancy, childhood, and adolescence: a clinician's approach. Amsterdam; Boston: Butterworth-Heinemann; 2003.
15. Kaindl AM, Ruschendorf F, Krause S, Goebel HH, Koehler K, Becker C, et al. Missense mutations of ACTA1 cause dominant congenital myopathy with cores. J Med Genet 2004; 41: 842-8.
16. Kee AJ, Hardeman EC. Tropomyosins in skeletal muscle diseases. Adv Exp Med Biol 2008; 644: 143-57.
17. Kimber E, Tajsharghi H, Kroksmark AK, Oldfors A, Tulinius M. Distal arthrogryposis: clinical and genetic findings. Acta Paediatr 2012; 101: 877-87.
18. Kostyukova AS. Tropomodulins and tropomodulin/tropomyosin interactions. Cell Mol Life Sci 2008; 65: 563-9.
19. Laurent-Winter C, Soussi-Yanicostas N, Butler-Browne GS. Biphasic expression of slow myosin light chains and slow tropomyosin isoforms during the development of the human quadriceps muscle. FEBS Lett 1991; 280: 292-6.
20. Lehtokari VL, Ceuterick-de Groote C, de Jonghe P, Marttila M, Laing NG, Pelin K, et al. Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2. Neuromuscul Disord 2007; 17: 433-42.
21. Lin JJ, Eppinga RD, Warren KS, McCrae KR. Human tropomyosin isoforms in the regulation of cytoskeleton functions. Adv Exp Med Biol 2008; 644: 201-22.
22. Mabry CC, Barnett IS, Hutcheson MW, Sorenson HW. Trismus pseudocamptodactyly syndrome: Dutch-Kentucky syndrome. J Pediatr 1974; 85: 503-8.
23. Marttila M, Lemola E, Wallefeld W, Memo M, Donner K, Laing NG, et al. Abnormal actin binding of aberrant beta-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy. Biochem J 2012; 442: 231-9.
24. Monnier N, Lunardi J, Marty I, Mezin P, Labarre-Vila A, Dieterich K, et al. Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy. Neuromuscul Disord 2009; 19: 118-23.
25. Moraczewska J, Greenfield NJ, Liu Y, Hitchcock-DeGregori SE. Alteration of tropomyosin function and folding by a nemaline myopathy-causing mutation. Biophys J 2000; 79: 3217-25.
26. Murakami K, Stewart M, Nozawa K, Tomii K, Kudou N, Igarashi N, et al. Structural basis for tropomyosin overlap in thin (actin) filaments and the generation of a molecular swivel by troponin-T. Proc Natl Acad Sci USA 2008; 105: 7200-5.
27. Nance JR, Dowling JJ, Gibbs EM, Bonnemann CG. Congenital myopathies: an update. Curr Neurol Neurosci Rep 2012; 12: 165-74.
28. Nilsson J, Tajsharghi H. Beta-tropomyosin mutations alter tropomyosin isoform composition. Eur J Neurol 2008; 15: 573-8.
29. Ochala J. Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction. J Mol Med (Berl) 2008; 86: 1197-204.
30. Ochala J, Iwamoto H, Larsson L, Yagi N. A myopathy-linked tropomyosin mutation severely alters thin filament conformational changes during activation. Proc Natl Acad Sci USA 2010; 107: 9807-12.
31. Ochala J, Li M, Ohlsson M, Oldfors A, Larsson L. Defective regulation of contractile function in muscle fibres carrying an E41K beta-tropomyosin mutation. J Physiol 2008; 586 (Pt 12): 2993-3004.
32. Ochala J, Li M, Tajsharghi H, Kimber E, Tulinius M, Oldfors A, et al. Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres. J Physiol 2007; 581 (Pt 3): 1283-92.
33. Ohlsson M, Quijano-Roy S, Darin N, Brochier G, Lacene E, Avila-Smirnow D, et al. New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations. Neurology 2008; 71: 1896-901.
34. Perry SV. Vertebrate tropomyosin: distribution, properties and function. J Muscle Res Cell Motil 2001; 22: 5-49.
35. Rao JN, Rivera-Santiago R, Li XE, Lehman W, Dominguez R. Structural analysis of smooth muscle tropomyosin alpha and beta isoforms. J Biol Chem 2012; 287: 3165-74.
36. Romero NB, Lehtokari VL, Quijano-Roy S, Monnier N, Claeys KG, Carlier RY, et al. Core-rod myopathy caused by mutations in the nebulin gene. Neurology 2009; 73: 1159-61.
37. Sambuughin N, Yau KS, Olive M, Duff RM, Bayarsaikhan M, Lu S, et al. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am J Hum Genet 2010; 87: 842-7.
38. Sewry CA, Jimenez-Mallebrera C, Muntoni F. Congenital myopathies. Curr Opin Neurol 2008; 21: 569-75.
39. Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, et al. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet 2003; 72: 681-90.
40. Tajsharghi H, Kimber E, Holmgren D, Tulinius M, Oldfors A. Distal arthrogryposis and muscle weakness associated with a betatropomyosin mutation. Neurology 2007a; 68: 772-5.
41. Tajsharghi H, Ohlsson M, Lindberg C, Oldfors A. Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2). Arch Neurol 2007b; 64: 1334-8.
42. Tajsharghi H, Ohlsson M, Palm L, Oldfors A. Myopathies associated with beta-tropomyosin mutations. Neuromuscul Disord 2012; 22: 923-33.
43. Telfer WR, Nelson DD, Waugh T, Brooks SV, Dowling JJ. neb: a zebrafish model of nemaline myopathy due to nebulin mutation. Dis Model Mech 2012; 5: 389-96.
44. Toydemir RM, Chen H, Proud VK, Martin R, van Bokhoven H, Hamel BC, et al. Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. Am J Med Genet A 2006; 140: 2387-93.
45. von der Hagen M, Kress W, Hahn G, Brocke KS, Mitzscherling P, Huebner A, et al. Novel RYR1 missense mutation causes core rod myopathy. Eur J Neurol 2008; 15: e31-2.
46. Wallgren-Pettersson C, Jasani B, Newman GR, Morris GE, Jones S, Singhrao S, et al. Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy. Neuromuscul Disord 1995; 5: 93-104.