Studies of RET gene expression and acetylcholinesterase activity in a series of sporadic Hirschsprung's disease

Autor(es)

Coelho, Maria Cecilia M. ^[1] ; Tannuri, Uenis ^[1] ; Benditt, Israel ^{[2, 1]} ; Santos, Maria Merces ^[1]

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Sch Med, Pediat Surg Lab LIM 30, Div Pediat Surg, BR-01246903 Sao Paulo - Brazil

^[2] Univ Sao Paulo, Fac Med, BR-01246903 Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: PEDIATRIC SURGERY INTERNATIONAL; v. 24, n. 9, p. 1017-1021, SEP 2008.
• Citações Web of Science: 3

Resumo

The purpose is to present the studies of RET gene expression and acetylcholinesterase activity in 23 patients operated for Hirschsprung's disease (HD). The patients underwent either transanal endorectal pull-through or Duhamell's procedure. Full-thickness intestinal samples from the three different segments (ganglionic, intermediate and aganglionic) were collected. Each tissue sample was divided in two portions, one for AChE histochemical staining and the other for examination of RET mRNA expression level. All patients had an uneventful postoperative recovery. In all patients, the AChE stainings demonstrated the absence of activity in the ganglionic area, the marked increase of positive fibers in the aganglionic area, and little increase of positive fibers in the intermediate area. In the ganglionic and intermediate areas, all patients (100%) showed significant RET gene expression. In the aganglionic area, 18 patients (78.3%) did not present gene expression and the other five patients (21.7%) presented gene expression that was similar to the ganglionic and intermediate areas. The results reinforce the conclusion that the method of AChE staining is effective for the diagnosis of intestinal aganglionosis and confirm the knowledge that genes beyond RET may be implicated in the genesis of sporadic cases of HD. (AU)

• Processo FAPESP: 07/01333-2 - Efeitos de drogas imunossupressoras sobre a regeneração hepática em animais recém-desmamados: avaliação imunohistoquímica com utilização da técnica do tissue microarray
• Beneficiário: Uenis Tannuri
• Modalidade de apoio: Auxílio à Pesquisa - Regular