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Absence of motilin gene mutations in infantile hypertrophic pyloric stenosis

Anna Svenningsson1, Kristina Lagerstedt, Mir Davood Omrani

  • 1Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.

Journal of Pediatric Surgery
|March 25, 2008
PubMed

Insights

Mutations in the motilin gene (MLN) do not appear to cause infantile hypertrophic pyloric stenosis (IHPS). Researchers found no significant association between MLN variants and IHPS risk.

Area of Science:

  • Genetics
  • Pediatric Gastroenterology
  • Molecular Biology

Background:

  • Erythromycin use in infants under two weeks increases infantile hypertrophic pyloric stenosis (IHPS) risk up to tenfold.
  • Erythromycin acts as a motilin agonist, influencing gastrointestinal motility.

Purpose of the Study:

  • To investigate if mutations in the motilin gene (MLN) are a cause of IHPS.
  • To determine if the V15A polymorphism in the MLN is associated with IHPS.

Main Methods:

  • Screened the MLN for mutations and determined V15A polymorphism in 57 IHPS patients.
  • Utilized polymerase chain reaction and DNA sequencing.
  • Compared genotype and allele frequencies with 184 controls.

Main Results:

  • Detected 3 novel MLN sequence variants in 4 patients; one caused an amino acid change (A25G).
  • All detected variants were also found in controls or not inherited with IHPS.
  • No significant association was found between the V15A polymorphism and IHPS.

Conclusions:

  • The coding region of the MLN is excluded as a primary cause of IHPS.
  • Further research is needed to understand the role of the motilin pathway in IHPS pathogenesis.
Abstract

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