Usefulness of the ultrastructural and immunohistochemical analysis of cardiac biopsy in affected heart

Folia Neuropathologica

Volumn 48, Issue 1, 2010, Pages 57-63

  Fidziańska, Anna ^a   Glinka Lindner, Zofia ^a   Religa, Grzegorz ^b   Walczak, Ewa ^c  

^a MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^b INSTITUTE OF CARDIOLOGY   (Poland)

^c INSTITUTE OF RHEUMATOLOGY   (Poland)

Author keywords

Cardiac truncated proteins; Laminopathy; Sarcolemmopathy; Sarcomeropathy

Indexed keywords

DESMIN; DYSTROPHIN; LAMIN A; LAMIN C;

ADULT; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CELL MEMBRANE; CELL STRUCTURE; CHILD; CYTOPLASM; GENE MUTATION; HEART HYPERTROPHY; HEART MUSCLE BIOPSY; HEART MUSCLE CELL; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; PRESCHOOL CHILD; SARCOMERE; ULTRASTRUCTURE;

EID: 77950847402     PISSN: 16414640     EISSN: 1509572X     Source Type: Journal    
DOI: None     Document Type: Article

References (22)

1. Broers JL, Hutchinson CJ, Ramaekers FC. Laminopathies. J Pathol 2004; 204: 478-488.
2. Dalakas MC, Park KY, Semino-Mora C, Lee HS, Sivakumar K, Goldfarb LG. Desmin myopathy a skeletal myopathy with cardiomyopathy caused by mutation in desmin gene. N Engl J Med 2000; 342: 770-780. (Pubitemid 30151921)
3. Esham M, Bryan K, Milnes J, Holmes WB, Moncman CL. Expression of nebulette during early cardiac development. Cell Motil Cytoskeleton 2007; 64: 258-273. (Pubitemid 46452035)
4. Fidziańska A, Bilińska ZT, Tensson F, Wagner T, Walski M, Grzybowski J, Ruzyłło W, Hausmanowa-Petrusewicz I. Obliteration of cardiomyocyte nuclear architecture in patient with LMNA mutation. J Neurol Sci 2008; 271: 91-96.
5. Fidziańska A, Kotowicz J, Sadowska M, Goudeau B, Walczak E, Vicart P, Hausmanowa-Petrusewicz I. A novel desmin R355P mutation causes cardiac and skeletal muscle myopathy. Neuromusc Disord 2005; 81: 525-531. (Pubitemid 41033006)
6. Fidziańska A, Walczak E, Glinka Z, Religa G. Nuclear architecture remodeling in cardiomyocytes with lamin A deficiency. Folia Neuropathol 2008; 46: 196-203.
7. Gaisterfer-Lowrance AA, Kass S, Tanigawa G, Vosberg HP, McKenna W, Seidman CE, Seidman JG. Molecular basis for familial hypertrophic cardiomyopathy a beta-cardiac myosin heavy chain gene missense mutation. Cell 1990; 62: 999-1005. (Pubitemid 20269145)
8. Goebel HH. Desmin related myopathies. Curr Opin Neurol 1997: 10: 426-429.
9. Goldfarb LG, Park KY, Cerventakova L, Gorokhova S, Lee HS et al. Missense mutation in desmin associated with familial cardiac and skeletal myopathy. Nat Genet 1998: 19: 402-403. (Pubitemid 28357917)
10. Gottardt M, Hammer RE, Hubner N, Monti J, Witt CC et al. Conditional expression of mutant M-line titins results in cardiomyopathy with altered sarcomere structure. J Biol Chem 2003; 278: 6059-6065. (Pubitemid 36800857)
11. Granzier NL, Labeit S. The giant protein titin a major player in myocardial mechanics, signaling and disease. Circ Res 2005; 94: 284-295.
12. Kaprielan RR, Severs NJ. Dystrophin and the cardiomyocyte membrane cytoskeleton in the healthy and failure heart. Heart Fail Rev 2000; 5: 221-238.
13. Kunkel LM, Hoffman EP. Duchenne/Becker muscular dystrophy a short overview of the gene, the protein and current diagnostics. Brit Med Bull 1989; 45: 630-643. (Pubitemid 19189372)
14. Labeit S, Kolmemer B, Linke WA. The giant protein titin. Emerging roles in physiology and pathophysiology. Cir Res 1997; 80: 290-294. (Pubitemid 27056991)
15. Li D, Tapscoft T, Gonzaes O, Burch PE, Quinones MA et al. Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation 1999; 100: 461-464. (Pubitemid 29360152)
16. Muchir A, Worman HJ. The nuclear envelope and human disease. Physiology (Bethesda) 2004; 19: 309-314. (Pubitemid 39472643)
17. Niimura H, Patton KK, McKenna WJ, Soults J, Maron BJ et al. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation 2002; 105: 446-451. (Pubitemid 34141700)
18. Ozawa E, Nashino I, Nonaka I. Sarcolemmopathy-muscular dystrophies with cell membrane defects. Brain Pathol 2001; 11: 218- 230. (Pubitemid 32198849)
19. Surney CF, Knoblach S, Plastilli EE, Nagaraju K, Martin GR, Hoffman EP. Dystrophin-deficient cardiomyopathy in mouse expression of Nox4 and Lox are associated with fibrosis and altered functional parameters in the heart. Neuromusc Disord 2008; 18: 371-381.
20. Worman HJ, Bonne G. Nuclear envelope, nuclear lamina and inherited disease. Int Rev Cytol 2005; 246: 231-239.
21. Vicart P, Caron A, Guicheney P, Li Z, Prevost MC, Faure A. A missense mutation in the alphaB-crystallin chaperon gene causes a desmin-related myopathy. Nat Genet 1998; 20: 92-95. (Pubitemid 28410353)
22. Yoshida M, Ozawa F. Glucoprotein complex anchoring dystrophin to sarcomere. J Biochem 1990; 108: 748-752.