RT Journal Article
T1 Is the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B?
A1 Fernández, Raquel María
A1 Sánchez-Mejías, Avencia
A1 Ruiz-Ferrer, Maria Macarena
A1 López-Alonso, Manuel
A1 Antiñolo, Guillermo
A1 Borrego, Salud
K1 Enteric nervous system disorders
K1 Hirschsprung disease
K1 Intestinal neuronal dysplasia type B
K1 RET proto-oncogene
K1 Susceptibility haplotypes
K1 Sistema Nervioso Entérico
K1 Ganglios
K1 Genotipo
K1 Haplotipos
K1 Enfermedad de Hirschsprung
K1 Humanos
K1 Mutación
K1 Malformaciones del sistema servioso
K1 Fenotipo
K1 Plexo submucoso
K1 Proto-oncogenes
K1 Polimorfismo de nucleótido simple
AB Hirschsprung disease (HSCR) is defined by the absence of intramural ganglia of Meissner and Auerbach along variable lengths of the gastrointestinal tract. Intestinal neuronal dysplasia (IND) type B is characterized by the malformation of the parasympathetic submucous plexus of the gut. A connection appears to exist between these two enteric nervous system abnormalities. Due to the major role played by the RET proto-oncogene in HSCR, we sought to determine whether this gene was also related to INDB. dHPLC techniques were employed to screen the RET coding region in 23 patients presenting with INDB and 30 patients with a combined HSCR+INDB phenotype. In addition, eight RET single nucleotide polymorphisms (SNPs) were strategically selected and genotyped by TaqMan technology. The distribution of SNPs and haplotypes was compared among the different groups of patients (INDB, HSCR+INDB, HSCR) and the controls. We found several RET mutations in our patients and some differences in the distribution of the RET SNPs among the groups of study. Our results suggest an involvement of RET in the pathogenesis of intestinal INDB, although by different molecular mechanisms than those leading to HSCR. Further investigation is warranted to elucidate these precise mechanisms and to clarify the genetic nature of INDB.
PB Spandidos Publications
YR 2009
FD 2009-03
LK http://hdl.handle.net/10668/2066
UL http://hdl.handle.net/10668/2066
LA en
NO Fernández RM, Sánchez-Mejías A, Ruiz-Ferrer MM, López-Alonso M, Antiñolo G, Borrego S. Is the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B? Mol Med Rep 2009; 2(2):265-70
NO Journal Article;
DS RISalud
RD Apr 11, 2025