Congenital Megacolon: New Insight into Molecular Level
Keywords:
Hirschsprung's disease, Congenital megacolonAbstract
Hirschsprung's disease (HSCR) is a common pediatric surgical condition causing functional colonic obstruction. Although surgical treatment for the disease is well known, the underlying etiology and genetic basis have just gained more interest in recent years. This review focuses on the current concepts of molecular genetic and basic science as related to HSCR.
RET proto-oncogene on chromosome 10q1 1.2 is the first susceptibility gene for HSCR. The gene and its ligand 'GDNF play an important role in transduction of proliferation and differentiation signal into the neuronal precursors. Mutations of RET proto-oncogene are detected in 10 - 40 % of HSCR cases, the majority is long-segment cases. The second gene, ENDRB, maps to chromosome 13q22. ENDRB ligands are the endothelin molecules. Most of ENDRB mutations are found in short-segment HSCR.
Migratory arrest in HSCR could be related to the genetic derangement of the neural crest cells or the expression deficit of the genes. Moreover, alteration of neurotrophic factors as well as alterations of the intestinal microenvironment are also involved.
HSCR is classified as a simple form of neurocristopathy. Syndromic neurocristopathy, including MEN2A and Waardenberg syndromes, are closely linked to the disease, regarding embryology and genetic predisposition. Screening for oncogenic mutations in familial or long-segment HSCR is recommended.
References
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4. Ryan ET, Ecker JL, Christakis NA, et al. Hirschsprung's disease: associated anomalies and demographics. J Pediatr Surg 1992;27:76-81.
5. Swenson O. My early experience with Hirschsprung's disease. J Pediatr Surg 1989;24: 839-45.
6. Ashcraft KW. Pull-through procedures for Hirschsprung's disease. Semin Pediatr Surg 1998; 7: 83-4.
7. Martuciello G. Hirschsprung's disease as a neurocristopathy Pediar Surg Int 1997: 12: 2-10.
8. Martuciello G, Ceccherini I, Lerone M, et al. Pathogenesis of Hirschsprung's disease. J Pediatr Surg 2000; 35: 1017-25.
9. Robertson K, Mason I. Hirschsprung's disease: genetic mutations in mice and men. Gut 1997; 41: 436-41.
10. Kleinhaus S, Boley S, Sheran M, et al. A survey of the members of the American Association of Pediatrics. J Pediatr Surg 1979; 14: 588-97.
11. Russel MB, Russel Ca, Niebuhr E. Anepidemiologic study of Hirschsprung's disease and additional anomalies, Acta Pediatr 1994;83: 68-71.
12. lkeda K, Goto S. Diagnosis and treatment of Hirschsprung's disease in Japan: An analysis of 1,628 patients. Ann Surg 1984; 199:400-5.
13. Passarge E. The genetics of Hirschsprung's disease: evidence for heterogenous etiology in a study of sixty- three families. N Engl J Med 1697; 276: 138-43.
14. Badner JA, Sieber WK, Garver KL, et al. A genetic study of Hirschsprung's disease. Am J Hum Genet 1981; 18: 87-90.
15. Wartiovaara K, Salo M, Sariola H. Hirschsprung's disease genes and the development of the enteric nervous system. Ann Med 1998; 30: 66-74.
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32. Svensson PJ, Molander ML, Eng C, et al. Low frequency of RET mutations in Hirschsprung's disease in Sweden. Clin Genet 1998; 54: 39-44.
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45. Tanaka H, Moroi K, Iwai J, et al. Novel mutation of the endothelin S receptor gene in patients with Hirschsprung's disease and their characterization. J Biol Chem 1998;273:11378-83.
46. Oue T, Puri P. Altered endothelin3 and endothelin B receptor mRNA expression in Hirschsprung's disease. J Pediatr Surg 1999;34:1257-60.
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57. Allan IJ, Newgreen DF. The origin and differentiation of enteric neurons of the intestine Of fowl embryo. Am J Anat 1980;157:137-54.
58. Okamato E, Ueda T. Embryogenesis of intramural ganglia of the gut and its relation to Hirschsprung's disease. J Pediatr Surg 1967; 2: 437-43.
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60. Watanabe Y, Ito T, Harada T, et al. Expression of RET proto-oncogene products in the hypoganglionic segment of the small intestine of congenital aganglionosis rats. J Pediatr Surg 1995; 30:641-5.
61. Martuciello G, Favre A, Takahashi M, et al. Immunohistochemical localization of RET protein in Hirschsprung's disease. J Pediatr Surg 1995; 30: 433-6.
62. Kusafuga T, Puri P. Alterted RET gene mRNA expression in Hirschsprung's disease. J Pediatr Surg 1997; 32: 600-4.
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2. Titelbaum DH, Coran AG, Weitzman JJ, et al. Hirschsprung' s disease and related neuromuscular diseases of the colon, in O'Neill JA, Rowe MI, Grosfeld JL, et al (eds): Pediatric Surgery (5th ed), St Louis, MO, Mosby, 1998, pp 1381-424.
3. Holschneider A, Ure BM. Hirschsprung's disease. In Ashcraft KW. (ed): Pediatric Surgery (3rd ed), Philadelphia, W.B. Saunders, 2000, pp 543-472.
4. Ryan ET, Ecker JL, Christakis NA, et al. Hirschsprung's disease: associated anomalies and demographics. J Pediatr Surg 1992;27:76-81.
5. Swenson O. My early experience with Hirschsprung's disease. J Pediatr Surg 1989;24: 839-45.
6. Ashcraft KW. Pull-through procedures for Hirschsprung's disease. Semin Pediatr Surg 1998; 7: 83-4.
7. Martuciello G. Hirschsprung's disease as a neurocristopathy Pediar Surg Int 1997: 12: 2-10.
8. Martuciello G, Ceccherini I, Lerone M, et al. Pathogenesis of Hirschsprung's disease. J Pediatr Surg 2000; 35: 1017-25.
9. Robertson K, Mason I. Hirschsprung's disease: genetic mutations in mice and men. Gut 1997; 41: 436-41.
10. Kleinhaus S, Boley S, Sheran M, et al. A survey of the members of the American Association of Pediatrics. J Pediatr Surg 1979; 14: 588-97.
11. Russel MB, Russel Ca, Niebuhr E. Anepidemiologic study of Hirschsprung's disease and additional anomalies, Acta Pediatr 1994;83: 68-71.
12. lkeda K, Goto S. Diagnosis and treatment of Hirschsprung's disease in Japan: An analysis of 1,628 patients. Ann Surg 1984; 199:400-5.
13. Passarge E. The genetics of Hirschsprung's disease: evidence for heterogenous etiology in a study of sixty- three families. N Engl J Med 1697; 276: 138-43.
14. Badner JA, Sieber WK, Garver KL, et al. A genetic study of Hirschsprung's disease. Am J Hum Genet 1981; 18: 87-90.
15. Wartiovaara K, Salo M, Sariola H. Hirschsprung's disease genes and the development of the enteric nervous system. Ann Med 1998; 30: 66-74.
16. Martuciello G, Bicocchi MP, Dodero P, et al. Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10. Pediatr Surg Int 1992;7:308-10.
17. Lyonnet S, Bolino A, Pelet A, et al. A gene for Hirschsprung's disease maps to the proximal long arm of chromosome 10. Nat Genet1993;4: 346-50.
18. Angrist M, Kauffman E, Slaugenhaupt S, et al. A gene for Hirschsprung's disease (megacolon) in the mericentrometric region of human chromosome 10. Nat Genet 1993; 4:351-6.
19. Donis-Keller H, Dou S, Chi D, et al. Mutation in the RET proto oncogene are associated with MEN2A and FMTC. Hum Mol Genet 1993; 2: 851-6
20. Mulligan LM, Eng C, Healey CS, et al. Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN2A and FMTC. Nat Genet 1994; 6: 70-4.
21. Romeo G, Ronchetto P, Luo Y, et al. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature 1994; 367:377-8.
22. Edery P, Lyonnet S, Mulligan LM, et al. Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature 1994; 367:378-80.
23. Attie T, Pelet A, Ederly P, et al. Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung's disease. Hum Mol Genet 1995; 4: 1381-6.
24. Angrist M, Bolk S, Thiel B, et al. Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung's disease. Hum Mol Genet 1995;4: 821-30.
25. Kusafuga T, Wang Y, Puri P. Mutation analysis of the RET, the endothelin-B receptor, and the endothelin-B genes in sporadic patients with Hirschsprung's disease. J Pediatr Surg 1997;32:501-4.
26. Puffenberger EG, Kauffman ER, Bolk S, et al. Identity by descent and association mapping of a recessive gene for Hirschsprung's disease on human chromosome 13q22. Hum Mol Genet1994;3: 1217-25.
27. Puffenberger EG, Hosoda K, Washington SS, et al. A missence mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 1994; 79: 1257-66.
28. Kusafuga T, Puri P. Genetic aspects of Hirschsprung' s disease. Semin Pediatr Surg 1998;7:148-55.
29. Tam PK, Gould SJ, Martuciello G, et al. RET protein in the human fetal rectum. J Pediatr Surg1996: 31:568-71.
30. Kusafuga T, Puri P. The RET proto-oncogene: a challenge to our understanding of disease pathogenesis. Pediatr Surg Int 1997;12:11-8.
31. Seri M, Yin L, Barone V, et al. Frequency of RET mutations in long- and short- segment Hirschsprung's disease. Hum Mutat 1997;9:243-9.
32. Svensson PJ, Molander ML, Eng C, et al. Low frequency of RET mutations in Hirschsprung's disease in Sweden. Clin Genet 1998; 54: 39-44.
33. Sancandi M, Ceccherini I, Costa, et al. Incidence of RET mutation in patients with Hirschsprung's disease. J Pediatr Surg 2000; 35: 139-43.
34. Schuchardt A, D'Agati V, Larsson-Blomberg L, et al. Defects in the kidney and enteric nervous system of mice lacking the tyrosine receptor ret. Nature 1994; 367:380-3.
35. Durbec P, Marcos-Gutierrez C, Kilkenny C, et al. GDNF signalling through the RET receptor tyrosine kinase. Nature 1996;381:789-93.
36. Trupp M, Arenas E, Fainzilber M, et al. Functional receptor for GDNF encoded by the c-ret proto-oncogene. Nature 1996;381:785-9.
37. Lin LH, Doherty DH, Lile JD, et al. GDNF: A glial cell line derived neurotrophic factors. Science 1993; 260: 1130-2.
38. Henderson CE, Phillips HS, Pollock RA, et al. GDNF: A potent survival factor for motorneurons present in peripheral nerve and muscle. Science 1994; 266: 1062-4.
39. Yan Q, Matheson C, Lopez O. In vivo neurotrophic effects of GDNF on neonatal and adult facial motor neurons. Nature 1995; 373: 341-4.
40. Oppenheim RW, Houenou LJ, Johnson JE, et al. Developing motor neurons rescued from programmed and axotomy-induced cell death by GDNF. Nature 1995; 373: 344-6.
41. Schindelhauer D, Schuffenhauer S, Gasser Y, et al. The gene coding for glial cell line derived neurotrophic factor (GDNF) maps to chromosome 5p12-p13.1. Genomics 1995; 28:605-7.
42. Jing S, Wen D, Yu Y, et al. GDNF-induced activation of the ret protein tyrosine kinase is mediated by GDNFR-alpha, a novel receptor for GDNF. Nature 1996; 382: 80-3.
43. Angrist M, Bolk S, Halushka M, et al. Germline mutations in glial cell line-derived neurotrophic factor(GDNF) and RET in a Hirschsprung's disease patient. Nat Genet 1996; 14: 341-4.
44. Ivanchuck SM, Myers SM, Eng C, et al. De novo mutation of GDNF, ligand for the RET/GDNFR-a receptor complex in Hirschsprung's disease. Hum Mol Genet 1996; 5: 2023-6.
45. Tanaka H, Moroi K, Iwai J, et al. Novel mutation of the endothelin S receptor gene in patients with Hirschsprung's disease and their characterization. J Biol Chem 1998;273:11378-83.
46. Oue T, Puri P. Altered endothelin3 and endothelin B receptor mRNA expression in Hirschsprung's disease. J Pediatr Surg 1999;34:1257-60.
47. Kusafuga T, Puri P. Mutation of the endothelin B receptor and endothelin 3 genes in Hirschsprung's disease. Pediatr Surg Int 1997; 12: 19-23.
48. Hoftra RMW, Osinga J, Tan-Sindhunata G, et al. A homozygous mutation in the endothelin 3 gene associated with a combined Waardenberg type 2 and Hirschsprung phenotype (Shah-Waardenberg syndrome). Nat Genet 1996;12:445-7.
49. Edery P, Attie T, Amiel J, et al. Mutation of the endothelin 3 gene in the Waardenberg-Hirschsprung's disease(Shah-Waardenberg syndrome), Nat Genet 1996; 12: 442-4.
50. Bidaud C, Solomon R, Van Camp G, et al. Endothelin 3 gene mutation in isolated and syndromic Hirschsprung's disease. Eur J Hum Genet 1997; 5:247-51.
51. Hosoda K, Hammer RE, Richardson JA, et al. Targeted and natural (piebald-lethal) mutations of endothelin B receptor gene produce megacolon associated with spotted coat color in mice. Cell 1994; 79: 1267-76.
52. Baynash AG, Hosoda K, Giaid A, et al. Interaction of endothelin 3 with endothelin B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell 1994;79: 1277-85.
53. Lane P, Liu H. Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered 1984;75: 435-9.
54. Xu D, Emoto N, Giaid A, et al. ECE-1, A membrane-bound metalloproteinase that catalyzes the proteolytic activation of big endothelin-1. Cell 1994; 78: 473-85.
55. Pingault V, Bondurand N, Kuhlbrodt K, et al. SOX 10 mutations in patients with Waardenberg-Hirschsprung's disease. Nat Genet 1998; 18: 171-3.
56. Yntema CL, Hammond WS. The origin of intrinsic ganglia of trunk viscera from vagal neural crest in the chick embryo. J Comp Neurol 1954; 101: 515-54.
57. Allan IJ, Newgreen DF. The origin and differentiation of enteric neurons of the intestine Of fowl embryo. Am J Anat 1980;157:137-54.
58. Okamato E, Ueda T. Embryogenesis of intramural ganglia of the gut and its relation to Hirschsprung's disease. J Pediatr Surg 1967; 2: 437-43.
59. Puri P, Ohshiro K, Wester T. Hirschsprung's disease: A search for etiology. Semin Pediatr Surg 1998; 7: 140-7.
60. Watanabe Y, Ito T, Harada T, et al. Expression of RET proto-oncogene products in the hypoganglionic segment of the small intestine of congenital aganglionosis rats. J Pediatr Surg 1995; 30:641-5.
61. Martuciello G, Favre A, Takahashi M, et al. Immunohistochemical localization of RET protein in Hirschsprung's disease. J Pediatr Surg 1995; 30: 433-6.
62. Kusafuga T, Puri P. Alterted RET gene mRNA expression in Hirschsprung's disease. J Pediatr Surg 1997; 32: 600-4.
63. Wartiovaara K, Salo M, Sainio K, et al. Distribution of glial cell line-derived neurotrophic factor mRNA in human colon suggests roles for muscularis mucosae in innervation. J Pediatr Surg 1998; 33: 1501-6.
64. Ohshiro K, Puri P. Reduced glial cell line-derived neurotrophic factor level in aganglionic bowel in Hirschsprung's disease. J Pediatr Surg 1998: 33: 904-8.
65. Zhan J, XIU Y, Gu J, et al. Expression of RET proto-oncogene and GDNF deficit in Hirschsprung's disease. J Pediatr Surg 1999:34:1606-9.
66. Hearn CJ, Murphy M, Newgreen D. GDNF and ET-3 differentially modulate the numbers of avian enteric neural crest cells and enteric neurons in vitro. Dev Biol 1998; 197:93-105.
67. Thoenen H. The changing scene of neurotrophic factor. Trends Neurosci 1991; 14: 165-70.
68. Thoenen H, Edgar D. Neurotrophic factors .Science 1985;229:238-42.
69. Eide FF, Lowenstein DH, Reichardt LF. Neurotrophins and their receptors-current concepts and implications for neurologic disease. Exp Neurol 1993; 121: 200-14.
70. Hoehner JC, Wester T, Pahlman S. Alteration in neurotrophin and neurotrophin-receptor localization in Hirschsprung's disease. J Pediatr Surg 1996; 31: 1524-9.
71. Kuroda T, Ueda M, Nakano M, et al. Altered production of nerve growth factor in aganglionic intestines. J Pediatr Surg 1994;29:288-92.
72. Brauer PR, Markwald RR. Attachment of neural crest cells to endogenous extracellular matrices. Anat Rec 1987;219: 275-85.
73. Fujimoto T, Hata J, Yogoyama S, et al. A study of the extracellular matrix protein as the migration pathway of neural crest cells in the gut: An analysis in human embryos with special reference to the pathogenesis of Hirschsprung's disease. J Pediatr Surg 1989: 24: 550-6.
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2000-12-28
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Sangkhathat S. Congenital Megacolon: New Insight into Molecular Level. Thai J Surg [Internet]. 2000 Dec. 28 [cited 2024 Nov. 23];21(4):113-20. Available from: https://he02.tci-thaijo.org/index.php/ThaiJSurg/article/view/243274
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Articles must be contributed solely to The Thai Journal of Surgery and when published become the property of the Royal College of Surgeons of Thailand. The Royal College of Surgeons of Thailand reserves copyright on all published materials and such materials may not be reproduced in any form without the written permission.
