Abnormal distribution of sarcoglycan subcomplex in colonic smooth muscle cells of aganglionic bowel

International Journal of Molecular Medicine

Volumn 25, Issue 3, 2010, Pages 353-359

  Arena, Salvatore ^a   Cutroneo, Giuseppina ^b   Favaloro, Angelo ^b   Sinatra, Maria Teresa ^a   Trimarchi, Fabio ^b   Scarvaglieri, Silvia ^a   Mallamace, Agostino ^b   Arena, Francesco ^b   Anastasi, Giuseppe ^b   Di Benedetto, Vincenzo ^a  

^a UNIVERSITY OF CATANIA   (Italy)

^b UNIVERSITY OF MESSINA   (Italy)

Author keywords

Aganglionic bowel; Hirschsprung's disease; Sarcoglycans; Smooth muscle cells

Indexed keywords

ALPHA SARCOGLYCAN; BETA SARCOGLYCAN; DELTA SARCOGLYCAN; EPSILON SARCOGLYCAN; GAMMA SARCOGLYCAN; PROTEIN SUBUNIT; SARCOGLYCAN;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; COLON; CONTROLLED STUDY; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE TEST; INFANT; INTESTINE MUSCLE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SMOOTH MUSCLE FIBER;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; COLON; ENTERIC NERVOUS SYSTEM; HIRSCHSPRUNG DISEASE; HUMANS; INFANT; MUSCLE CONTRACTION; MYOCYTES, SMOOTH MUSCLE; PROTEIN SUBUNITS; SARCOGLYCANS;

EID: 76949094828     PISSN: 11073756     EISSN: 1791244X     Source Type: Journal    
DOI: 10.3892/ijmm_00000352     Document Type: Article

References (31)

1. de Lorijn F, Boeckxstaens GE and Benninga MA: Symptomatology, pathophysiology, diagnostic work-up, and treatment of Hirschsprung disease in infancy and childhood. Curr Gastroenterol Rep 9: 245-253, 2007.
2. Scharli AF: Pathophysiology of classical Hirschsprung's disease. In: Hirschsprung's disease and allied disorders. Holschneider AM and Puri P (eds). Springer, Frankfurt, pp109-125, 2000.
3. Langer JC, Betti PA and Blennerhassett MG: Smooth muscle from aganglionic bowel in Hirschsprung's disease impairs neuronal development in vitro. Cell Tissue Res 276: 181-186, 1994.
4. Puri P, Ohshiro K and Wester T: Hirschsprung's disease: a search for etiology. Semin Pediatr Surg 7: 140-147, 1998.
5. Nemeth L, Rolle U and Puri P: Altered cytoskeleton in smooth muscle of aganglionic bowel. Arch Pathol Lab Med 126: 692-696, 2002.
6. Stromer MH: Immunocytochemistry of the muscle cell cytoskeleton. Microsc Res Tech 31: 95-105, 1995.
7. Small JV and Limona M: The cytoskeleton of the vertebrate smooth muscle cell. Acta Physiol Scand 164: 341-348, 1998.
8. Stromer MH: The cytoskeleton in skeletal, cardiac and smooth muscle cells. Histol Histopathol 13: 283-291, 1998.
9. Byers TJ, Kunkel LM and Watkins SC: The subcellular distribution of dystrophin in mouse skeletal, cardiac, and smooth muscle. J Cell Biol 115: 411-421, 1991.
10. Miyatake M, Miike T, Zhao JE, Yoshioka K, Uchino M and Usuku G: Dystrophin: localization and presumed function. Muscle Nerve 14: 113-119, 1991.
11. Campbell KP: Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage. Cell 80: 675-679, 1995.
12. Liu LA and Engvall E: Sarcoglycan isoforms in skeletal muscle. J Biol Chem 274: 38171-38176, 1999.
13. Blake DJ, Weir A, Newey SE and Davies KE: Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiol Rev 82: 291-329, 2002.
14. Anastasi G, Cutroneo G, Sidoti A, et al: Sarcoglycan subcomplex expression in normal human smooth muscle. J Histochem Cytochem 55: 831-843, 2007.
15. Wheeler MT and McNally EM: Sarcoglycans in vascular smooth and striated muscle. Trends Cardiovasc Med 13: 238-243, 2003.
16. Ciftci AO, Sara Y, Tanyel FC, Bozdag O, Orer HS and Onur R: The role of nitrergic system on the contractility of colonic circular smooth muscle in Hirschsprung's disease. J Pediatr Surg 34: 1477-1481, 1999.
17. Bönnemann CG, Passos-Bueno MR, McNally EM, et al: Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). Hum Mol Genet 5: 1953-1961, 1996.
18. McNally EM, Duggan D, Gorospe JR, et al: Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. Hum Mol Genet 5: 1841-1847, 1996.
19. Noguchi S, McNally EM, Ben Othmane K, et al: Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science 270: 819-822, 1995.
20. Bönnemann CG, Modi R, Noguchi S, et al: Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet 11: 266-273, 1995.
21. Arena S, Favaloro A, Cutroneo G, et al: Sarcoglycan subcomplex expression in refluxing ureteral endings. J Urol 179: 1980-1986, 2008.
22. Martucciello G, Ceccherini I, Lerone M and Jasonni V: Pathogenesis of Hirschsprung's disease. J Pediatr Surg 35: 1017-1025, 2000.
23. Nemeth L, Yoneda A, Kader M, Devaney D and Puri P: Threedimensional morphology of gut innervation in total intestinal aganglionosis using whole-mount preparation. J Pediatr Surg 36: 291-295, 2001.
24. Parikh DH, Tam PK, Lloyd DA, Van Velzen D and Edgar DH: Quantitative and qualitative analysis of the extracellular matrix protein, laminin, in Hirschsprung's disease. J Pediatr Surg 27: 991-995, 1992.
25. Petrof BJ, Shrager JB, Stedman HH, Kelly AM and Sweeney HL: Dystrophin protects the sarcolemma from stresses developed during muscle contraction. Proc Natl Acad Sci USA 90: 3710-3714, 1993.
26. Imamura M, Mochizuki Y, Engvall E and Takeda S: Epsilon-sarcoglycan compensates for lack of alpha-sarcoglycan in a mouse model of limb-girdle muscular dystrophy. Hum Mol Genet 14: 775-783, 2005.
27. Anastasi G, Cutroneo G, Sidoti A, et al: Sarcoglycan subcomplex in normal human smooth muscle: an immunohistochemical and molecular study. Int J Mol Med 16: 367-374, 2005.
28. Zimprich A, Grabowski M, Asmus F, et al: Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 29: 66-69, 2001.
29. Ingber DE: Cellular mechanotransduction: putting all the pieces together again. FASEB J 20: 811-827, 2006.
30. Straub V, Ettinger AJ, Durbeej M, Venzke DP, Cutshall S, Sanes JR and Campbell KP: Epsilon-sarcoglycan replaces alpha-sarcoglycan in smooth muscle to form a unique dystrophin-glycoprotein complex. J Biol Chem 274: 27989-27996, 1999.
31. Ozawa E, Mizuno Y, Hagiwara Y, Sasaoka T and Yoshida M: Molecular and cell biology of the sarcoglycan complex. Muscle Nerve 32: 563-576, 2005.