Expression of cardiac α-actin spares extraocular muscles in skeletal muscle α-actin diseases - Quantification of striated α-actins by MRM-mass spectrometry

Neuromuscular Disorders

Volumn 18, Issue 12, 2008, Pages 953-958

  Ravenscroft, Gianina ^a,b   Colley, Stephen M J ^c,d   Walker, Kendall R ^a   Clement, Sophie ^e   Bringans, Scott ^f   Lipscombe, Richard ^f   Fabian, Victoria A ^c   Laing, Nigel G ^a   Nowak, Kristen J ^a  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c ROYAL PERTH HOSPITAL   (Australia)

^d FREMANTLE HOSPITAL   (Australia)

^e UNIVERSITY OF GENEVA   (Switzerland)

^f PROTEOMICS INTERNATIONAL   (Australia)

Author keywords

Cardiac actin; Extraocular muscle; MRM mass spectrometry; Skeletal muscle actin; Skeletal muscle actin myopathies

Indexed keywords

ALPHA ACTIN;

ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; EXTRAOCULAR MUSCLE; HEART; HUMAN; HUMAN TISSUE; IMMUNOCHEMISTRY; MASS SPECTROMETRY; MYOPATHY; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; QUANTITATIVE ANALYSIS; SHEEP; SKELETAL MUSCLE; SWINE; WESTERN BLOTTING;

ACTINS; ANIMALS; BLOTTING, WESTERN; GUINEA PIGS; HUMANS; IMMUNOCHEMISTRY; MASS SPECTROMETRY; MUSCLE, SKELETAL; MYOCARDIUM; OCULOMOTOR MUSCLES; PROTEIN ISOFORMS; SHEEP; SPECIES SPECIFICITY;

EID: 56949105123     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2008.09.010     Document Type: Article

References (40)

1. Andrade F.H., Porter J.D., and Kaminski H.J. Eye muscle sparing by the muscular dystrophies: lessons to be learned?. Microsc Res Tech 48 (2000) 192-203
2. Ryan M.M., Schnell C., Strickland C.D., et al. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol 50 (2001) 312-320
3. Yu Wai Man C.Y., Chinnery P.F., and Griffiths P.G. Extraocular muscles have fundamentally distinct properties that make them selectively vulnerable to certain disorders. Neuromuscul Disord 15 (2005) 17-23
4. Bonnemann C.G., and Laing N.G. Myopathies resulting from mutations in sarcomeric proteins. Curr Opin Neurol 17 (2004) 529-537
5. Nowak K.J., Wattanasirichaigoon D., Goebel H.H., et al. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet 23 (1999) 208-212
6. Ilkovski B., Cooper S.T., Nowak K., et al. Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. Am J Hum Genet 68 (2001) 1333-1343
7. Buxmann H., Schlosser R., Schlote W., et al. Congenital nemaline myopathy due to ACTA1-gene mutation and carnitine insufficiency: a case report. Neuropediatrics 32 (2001) 267-270
8. Jungbluth H., Sewry C.A., Brown S.C., et al. Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene. Neuromuscul Disord 11 (2001) 35-40
9. Kaindl A.M., Ruschendorf F., Krause S., et al. Missense mutations of ACTA1 cause dominant congenital myopathy with cores. J Med Genet 41 (2004) 842-848
10. Laing N.G., Clarke N.F., Dye D.E., et al. Actin mutations are one cause of congenital fibre type disproportion. Ann Neurol 56 (2004) 689-694
11. Porter J.D., Poukens V., Baker R.S., and Demer J.L. Structure-function correlations in the human medial rectus extraocular muscle pulleys. Invest Ophthalmol Vis Sci 37 (1996) 468-472
12. Andrade F.H., Merriam A.P., Guo W., et al. Paradoxical absence of M lines and downregulation of creatine kinase in mouse extraocular muscle. J Appl Physiol 95 (2003) 692-699
13. Wieczorek D.F., Periasamy M., Butler-Browne G.S., Whalen R.G., and Nadal-Ginard B. Co-expression of multiple myosin heavy chain genes, in addition to a tissue-specific one, in extraocular musculature. J Cell Biol 101 (1985) 618-629
14. Spencer R.F., and Porter J.D. Structural organization of the extraocular muscles. Rev Oculomot Res 2 (1988) 33-79
15. Rushbrook J.I., Weiss C., Ko K., et al. Identification of alpha-cardiac myosin heavy chain mRNA and protein in extraocular muscle of the adult rabbit. J Muscle Res Cell Motil 15 (1994) 505-515
16. Porter J.D., Khanna S., Kaminski H.J., et al. Extraocular muscle is defined by a fundamentally distinct gene expression profile. Proc Natl Acad Sci USA 98 (2001) 12062-12067
17. Porter J.D. Commentary: extraocular muscle sparing in muscular dystrophy: a critical evaluation of potential protective mechanisms. Neuromuscul Disord 8 (1998) 198-203
18. Porter J.D., Merriam A.P., Hack A.A., Andrade F.H., and McNally E.M. Extraocular muscle is spared despite the absence of an intact sarcoglycan complex in gamma- or delta-sarcoglycan-deficient mice. Neuromuscul Disord 11 (2001) 197-207
19. Kaminski H.J., Li Z., Richmonds C., Ruff R.L., and Kusner L. Susceptibility of ocular tissues to autoimmune diseases. Ann NY Acad Sci 998 (2003) 362-374
20. Blake D.J., Tinsley J.M., and Davies K.E. Utrophin: a structural and functional comparison to dystrophin. Brain Pathol 6 (1996) 37-47
21. Porter J.D., Merriam A.P., Khanna S., et al. Constitutive properties, not molecular adaptations, mediate extraocular muscle sparing in dystrophic mdx mice. FASEB J 17 (2003) 893-895
22. Tinsley J., Deconinck N., Fisher R., et al. Expression of full-length utrophin prevents muscular dystrophy in mdx mice. Nat Med 4 (1998) 1441-1444
23. Ilkovski B., Clement S., Sewry C., North K.N., and Cooper S.T. Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy. Neuromuscul Disord 15 (2005) 829-835
24. Vandekerckhove J., Bugaisky G., and Buckingham M. Simultaneous expression of skeletal muscle and heart actin proteins in various striated muscle tissues and cells. A quantitative determination of the two actin isoforms. J Biol Chem 261 (1986) 1838-1843
25. Nowak K.J., Sewry C.A., Navarro C., et al. Nemaline myopathy caused by absence of alpha-skeletal muscle actin. Ann Neurol 61 (2007) 175-184
26. Fischer M.D., Budak M.T., Bakay M., et al. Definition of the unique human extraocular muscle allotype by expression profiling. Physiol Genomics 22 (2005) 283-291
27. Bergen III H.R., Ajtai K., Burghardt T.P., Nepomuceno A.I., and Muddiman D.C. Mass spectral determination of skeletal/cardiac actin isoform ratios in cardiac muscle. Rapid Commun Mass Spectrom 17 (2003) 1467-1471
28. Clement S., Chaponnier C., and Gabbiani G. A subpopulation of cardiomyocytes expressing alpha-skeletal actin is identified by a specific polyclonal antibody. Circ Res 85 (1999) e51-e58
29. Ravenscroft G., Nowak K.J., Jackaman C., et al. Dissociated flexor digitorum brevis myofiber culture system-A more mature muscle culture system. Cell Motil Cytoskeleton 64 (2007) 727-738
30. Cooper S.T., Lo H.P., and North K.N. Single section Western blot: improving the molecular diagnosis of the muscular dystrophies. Neurology 61 (2003) 93-97
31. Woodcock-Mitchell J., Mitchell J.J., Low R.B., et al. Alpha-smooth muscle actin is transiently expressed in embryonic rat cardiac and skeletal muscles. Differentiation 39 (1988) 161-166
32. Budak M.T., Bogdanovich S., Wiesen M.H., et al. Layer-specific differences of gene expression in extraocular muscles identified by laser-capture microscopy. Physiol Genomics 20 (2004) 55-65
33. Khanna S., Cheng G., Gong B., et al. Genome-wide transcriptional profiles are consistent with functional specialization of the extraocular muscle layers. Invest Ophthalmol Vis Sci 45 (2004) 3055-3066
34. Wiesen M.H., Bogdanovich S., Agarkova I., et al. Identification and characterization of layer-specific differences in extraocular muscle m-bands. Invest Ophthalmol Vis Sci 48 (2007) 1119-1127
35. Fraterman S., Zeiger U., Khurana T.S., Wilm M., and Rubinstein N.A. Quantitative proteomic profiling of sarcomere associated proteins in limb and extraocular muscle allotypes. Mol Cell Proteomics 6 (2007) 724-737
36. Schwartz K., de la Bastie D., Bouveret P., Oliviero P., Alonso S., and Buckingham M. Alpha-skeletal muscle actin mRNA's accumulate in hypertrophied adult rat hearts. Circ Res 59 (1986) 551-555
37. Bakerman P.R., Stenmark K.R., and Fisher J.H. Alpha-skeletal actin messenger RNA increases in acute right ventricular hypertrophy. Am J Physiol 258 (1990) L173-L178
38. Carrier L., Boheler K.R., Chassagne C., et al. Expression of the sarcomeric actin isogenes in the rat heart with development and senescence. Circ Res 70 (1992) 999-1005
39. Stilli D., Bocchi L., Berni R., et al. Correlation of alpha-skeletal actin expression, ventricular fibrosis and heart function with the degree of pressure overload cardiac hypertrophy in rats. Exp Physiol 91 (2006) 571-580
40. Adachi S., Ito H., Tamamori M., Tanaka M., Marumo F., and Hiroe M. Skeletal and smooth muscle alpha-actin mRNA in endomyocardial biopsy samples of dilated cardiomyopathy patients. Life Sci 63 (1998) 1779-1791