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Updated: May 25, 2026
05:45
Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
[Study of polymorphisms associated to Hirschsprung's disease]
L Vega Hernández1, L Castaño González, O Belar Beitia
1Unidad de Investigación, Hospital de Cruces, Barakaldo, Bizkaia. lorena.vegahernandez@osakidetza.net
Summary
Hirschsprung's disease (HSCR) is a neurocristopathy linked to neural crest cell migration defects. Specific RET gene polymorphisms, including p.Leu769Leu, p.Gly691Ser, and p.Ser904Ser, show association with HSCR, suggesting a genetic predisposition.
Area of Science:
- Developmental biology
- Genetics
- Gastroenterology
Context:
- Hirschsprung's disease (HSCR) is a congenital disorder resulting from failed neural crest cell migration during embryonic development, leading to absent enteric ganglia.
- HSCR is classified as a neurocristopathy, impacting the enteric nervous system (ENS).
- Advances in surgical treatments have improved patient outcomes, facilitating genetic research into HSCR etiology.
Purpose:
- To investigate the potential role of specific polymorphisms in the RET gene as contributing factors to Hirschsprung's disease.
- To analyze genetic variations within the RET gene in HSCR patients and compare them with healthy individuals.
Summary:
- Genetic analysis of the RET gene in HSCR patients was performed using direct sequencing and TaqMan genotyping.
- Significant associations were found between specific RET gene alleles and HSCR.
- Identified associated polymorphisms include p.Leu769Leu (c.2307T>G, Exon 13), p.Gly691Ser (c.2071G>A, Exon 11), and p.Ser904Ser (c.2712C>G, Exon 15).
Impact:
- These findings suggest that certain RET gene polymorphisms may confer a genetic predisposition to Hirschsprung's disease.
- The study contributes to understanding the genetic basis of HSCR, potentially aiding in risk assessment and genetic counseling.
- Highlights the importance of the RET oncogene in ENS development and its relevance to neurocristopathies.
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