Idiopathic slow transit constipation and megacolon are not associated with neurturin mutations

Neurogastroenterology and Motility

Volumn 14, Issue 5, 2002, Pages 513-517

  Chen, B ^a   Knowles, C H ^b   Scott, M ^b   Anand, P ^b   Williams, N S ^b   Milbrandt, J ^c   Tam, P K H ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

^b QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Enteric nervous system; Hirschsprung's disease; Megacolon; Neurotrophic factor; Neurturin; Slow transit constipation

Indexed keywords

GENOMIC DNA; NEURTURIN;

ADULT; ARTICLE; CLINICAL ARTICLE; CONSTIPATION; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; FAMILY HISTORY; FEMALE; GENE MUTATION; HIRSCHSPRUNG DISEASE; HUMAN; HYPOTHESIS; MALE; MEGACOLON; PRIORITY JOURNAL;

ADULT; CONSTIPATION; EXONS; FEMALE; GENE FREQUENCY; HUMANS; MALE; MEGACOLON; MIDDLE AGED; MUTATION; NERVE GROWTH FACTORS; NEURTURIN;

EID: 0036403029     PISSN: 13501925     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2982.2002.00354.x     Document Type: Article

References (34)

1. Preston DM, Lennard-Jones JE. Severe chronic constipation of young women: 'Idiopathic slow transit constipation'. Gut 1986; 27: 41-8.
2. Gattuso JM, Kamm MA, Morris G, Britton KE. Gastrointestinal transit in patients with idiopathic megarectum. Dis Colon Rectum 1996; 39: 1044-50.
3. Preston DM, Lennard-Jones JE, Thomas BM. Towards a radiologic definition of idiopathic megacolon. Gastrointest Radiol 1985; 10: 167-9.
4. Pemberton JH, Rath DM, Ilstrup DM. Evaluation and surgical treatment of severe chronic constipation. Ann Surg 1991; 214: 403-13.
5. Schouten WR, ten Kate FJ, de Graaf EJ, Gilberts EC, Simons JL, Kluck P. Visceral neuropathy in slow transit constipation: an immunohistochemical investigation with monoclonal antibodies against neurofilament. Dis Colon Rectum 1993; 36: 1112-7.
6. Gattuso JM, Smith VV, Kamm MA. Altered contractile proteins and neural innervation in idiopathic megarectum and megacolon. Histopathology 1998; 33: 34-8.
7. He CL, Burgart L, Wang L et al. Decreased interstitial cell of Cajal volume in patients with slow-transit constipation. Gastroenterology 2000; 118: 14-21.
8. Porter AJ, Wattchow DA, Hunter A, Costa M. Abnormalities of nerve fibers in the circular muscle of patients with slow transit constipation. Int J Colorectal Dis 1998; 13: 208-16.
9. Knowles CH, Martin JE. Slow transit constipation: a model for human gut dysmotility. Review of possible aetiologies. Neurogastroenterol Motil 2000; 12: 181-96.
10. Gershon MD. Genes and lineages in the formation of the enteric nervous system. Curr Opin Neurobiol 1997; 7: 101-9.
11. Schuchardt A, D'Agati V, Larsson-Blomberg L, Constantini F, Pachnis V. Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature 1994; 367: 380-3.
12. Sanchez MP, Silos-Santiago I, Frisen J, He B, Lira SA, Barbacid M. Renal agenesis and the absence of enteric neurons in mice lacking GDNF. Nature 1996; 382: 70-3.
13. Chalazonitis A, Rothman TP, Chen J, Vinson EN, MacLennan AJ, Gershon MD. Promotion of the development of enteric neurons and glia by neuropoietic cytokines: interactions with neurotrophin-3. Dev Biol 1998; 198: 343-65.
14. Kotzbauer PT, Lampe PA, Heuckeroth RO et al. Neurturin, a relative of glial cell-line-derived neurotrophic factor. Nature 1996; 384: 467-70.
15. Klein RD, Sherman D, Ho WH et al. A GPI-linked protein that interacts with Ret to form a candidate neurturin receptor. Nature 1997; 387: 717-21.
16. Heuckeroth RO, Enomoto H, Grider JR et al. Gene targeting reveals a critical role for neurturin in the development and maintenance of enteric, sensory, and parasympathetic neurons. Neuron 1999; 22: 253-63.
17. Knowles CH, Scott SM, Wellmer A et al. Sensory and autonomic neuropathy in patients with idiopathic slow-transit constipation. Br J Surg 1999; 86: 54-60.
18. Drossman DA. The functional gastrointestinal disorders and the Rome II process. Gut 1999; 45 (Suppl. 2): II1-5.
19. 111In DTPA scintigraphic assessment of colonic transit in constipated subjects. Dig Dis Sci 1993; 38: 1032-9.
20. Heuckeroth RO, Kotzbauer P, Copeland NG et al. Neurturin, a novel neurotrophic factor, is localized to mouse chromosome 17 and human chromosome 19p13.3. Genomics 1997; 44: 137-40.
21. Chaussade S, Khyari A, Roche H et al. Determination of total and segmental colonic transit time in constipated patients: Results in 91 patients with a new simplified method. Dig Dis Sci 1989; 34: 1168-72.
22. Gattuso JM, Kamm MA. Clinical features of idiopathic megarectum and idiopathic megacolon. Gut 1997; 41: 93-9.
23. Angrist M, Bolk S, Halushka M, Lapchak PA, Chakravarti A. Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nat Genet 1996; 14: 341-4.
24. Doray B, Salomon R, Amiel J et al. Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease. Hum Mol Genet 1998; 7: 1449-52.
25. Edery P, Lyonnet S, Mulligan LM et al. Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature 1994; 367: 378-80.
26. Hofstra RM, Osinga J, Tan-Sindhunata G et al. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet 1996; 12: 445-7.
27. Lyonnet S, Bolino A, Pelet A et al. A gene for Hirschsprung's disease maps to the proximal long arm of chromosome 10. Nat Genet 1993; 4: 346-50.
28. Pingault V, Bondurand N, Kuhlbrodt K et al. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet 1998; 18: 171-3.
29. Puffenberger EG, Hosoda K, Washington SS et al. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 1994; 79: 1257-66.
30. Salomon R, Attie T, Pelet A et al. Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung's disease. Nat Genet 1996; 14: 345-7.
31. Knowles CH, Gayther SA, Scott M et al. Idiopathic slow-transit constipation is not associated with mutations of the RET proto-oncogene or GDNF. Dis Colon Rectum 2000; 43: 851-7.
32. Koch TR, Carney JA, Go L, Go VL. Idiopathic chronic constipation is associated with decreased colonic vasoactive intestinal peptide. Gastroenterology 1988; 94: 300-10.
33. Burleigh DE. Evidence for a functional cholinergic deficit in human colonic tissue resected for constipation. J Pharm Pharmacol 1988; 40: 55-7.
34. Bharucha AE, Camilleri M, Low PA, Zinsmeister AR. Autonomic dysfunction in gastrointestinal motility disorders. Gut 1993; 34: 397-401.