Anorectal malformations associated with enteric dysganglionosis in Danforth's short tail (Sd) mice

A. Favre, S. Briano, C. Mazzola, A. Brizzolara, M. Torre, M. Cilli, M. Sanguineti, G. Martucciello

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Background: The spontaneous mutant Danforth's short tail (Sd) mouse has been studied over the last 60 years from the morphological, embryological, and genetic point of view. The Sd mutation affects a gene essential to notochordal development, and the Sd mouse phenotype represents an analogue of human caudal regression syndrome. The Sd/Sd mouse presents different types of anorectal malformations (ARM) and was suggested as a simple and cheap model of investigation of ARM morphology and embryology. In the current study, the Sd mouse enteric nervous system (ENS) was thoroughly investigated with specific immunohistochemical markers. Methods: Macroscopic analysis, normal histology, and immunohistochemical techniques for detecting neurofilaments (NF) and NOS1 were used to study ENS of 138 Sd mice and 25 controls. Results: The surprising results of this study showed that Sd mutation is associated with different degrees of hypoganglionosis and aganglionosis. In 41% of Sd/SD-affected mice, the rectal pouch was aganglionic and in the remaining 58% was severely hypoganglionic. In addition, 4.1% of heterozygous mice presented a distal aganglionosis and 8.3% hypoganglionosis. Conclusions: These results suggest that Sd mutation independently affects distinct cell lines during early organogenesis, as notochord cells, ventral hingut endoderm, and neuroblasts migrating from neural crest cells. Comparing the Sd murine model with human pathology, this study confirms that the association between ARM and intestinal dysganglionosis is not rare and underlines the importance of detecting in every ARM patient the innervation abnormalities of rectal pouch and fistulas.

Original languageEnglish
Pages (from-to)1818-1821
Number of pages4
JournalJournal of Pediatric Surgery
Volume34
Issue number12
Publication statusPublished - Dec 1999

Fingerprint

Tail
Enteric Nervous System
Mutation
Rectal Fistula
Notochord
Endoderm
Embryology
Intermediate Filaments
Organogenesis
Neural Crest
Essential Genes
Anorectal Malformations
Histology
Pathology
Phenotype
Cell Line

Keywords

  • Aganglionosis
  • Danforth's short tail mice
  • Hirschsprung's disease
  • Sd mice

ASJC Scopus subject areas

  • Surgery

Cite this

Favre, A., Briano, S., Mazzola, C., Brizzolara, A., Torre, M., Cilli, M., ... Martucciello, G. (1999). Anorectal malformations associated with enteric dysganglionosis in Danforth's short tail (Sd) mice. Journal of Pediatric Surgery, 34(12), 1818-1821.

Anorectal malformations associated with enteric dysganglionosis in Danforth's short tail (Sd) mice. / Favre, A.; Briano, S.; Mazzola, C.; Brizzolara, A.; Torre, M.; Cilli, M.; Sanguineti, M.; Martucciello, G.

In: Journal of Pediatric Surgery, Vol. 34, No. 12, 12.1999, p. 1818-1821.

Research output: Contribution to journalArticle

Favre, A, Briano, S, Mazzola, C, Brizzolara, A, Torre, M, Cilli, M, Sanguineti, M & Martucciello, G 1999, 'Anorectal malformations associated with enteric dysganglionosis in Danforth's short tail (Sd) mice', Journal of Pediatric Surgery, vol. 34, no. 12, pp. 1818-1821.
Favre, A. ; Briano, S. ; Mazzola, C. ; Brizzolara, A. ; Torre, M. ; Cilli, M. ; Sanguineti, M. ; Martucciello, G. / Anorectal malformations associated with enteric dysganglionosis in Danforth's short tail (Sd) mice. In: Journal of Pediatric Surgery. 1999 ; Vol. 34, No. 12. pp. 1818-1821.
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AU - Mazzola, C.

AU - Brizzolara, A.

AU - Torre, M.

AU - Cilli, M.

AU - Sanguineti, M.

AU - Martucciello, G.

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