Publication: Is the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B?
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Identifiers
Date
2009-03
Authors
Fernández, Raquel María
Sánchez-Mejías, Avencia
Ruiz-Ferrer, Maria Macarena
López-Alonso, Manuel
Antiñolo, Guillermo
Borrego, Salud
Advisors
Journal Title
Journal ISSN
Volume Title
Publisher
Spandidos Publications
Abstract
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.
Description
Journal Article;
MeSH Terms
Medical Subject Headings::Anatomy::Nervous System::Peripheral Nervous System::Autonomic Nervous System::Enteric Nervous System
Medical Subject Headings::Anatomy::Nervous System::Ganglia
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Haplotypes
Medical Subject Headings::Diseases::Digestive System Diseases::Digestive System Abnormalities::Hirschsprung Disease
Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation
Medical Subject Headings::Anatomy::Nervous System::Peripheral Nervous System::Autonomic Nervous System::Autonomic Pathways::Myenteric Plexus
Medical Subject Headings::Diseases::Nervous System Diseases::Nervous System Malformations
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotype
Medical Subject Headings::Anatomy::Nervous System::Peripheral Nervous System::Autonomic Nervous System::Autonomic Pathways::Submucous Plexus
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Genes, Neoplasm::Oncogenes::Proto-Oncogenes
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide
Medical Subject Headings::Anatomy::Nervous System::Ganglia
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Haplotypes
Medical Subject Headings::Diseases::Digestive System Diseases::Digestive System Abnormalities::Hirschsprung Disease
Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation
Medical Subject Headings::Anatomy::Nervous System::Peripheral Nervous System::Autonomic Nervous System::Autonomic Pathways::Myenteric Plexus
Medical Subject Headings::Diseases::Nervous System Diseases::Nervous System Malformations
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotype
Medical Subject Headings::Anatomy::Nervous System::Peripheral Nervous System::Autonomic Nervous System::Autonomic Pathways::Submucous Plexus
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Genes, Neoplasm::Oncogenes::Proto-Oncogenes
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide
DeCS Terms
CIE Terms
Keywords
Enteric nervous system disorders, Hirschsprung disease, Intestinal neuronal dysplasia type B, RET proto-oncogene, Susceptibility haplotypes, Sistema Nervioso Entérico, Ganglios, Genotipo, Haplotipos, Enfermedad de Hirschsprung, Humanos, Mutación, Malformaciones del sistema servioso, Fenotipo, Plexo submucoso, Proto-oncogenes, Polimorfismo de nucleótido simple
Citation
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