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Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy

P M Thomas1, G J Cote, N Wohllk

  • 1Department of Medical Specialties, University of Texas M.D. Anderson Cancer Center, Houston 77030, USA.

Science (New York, N.Y.)
|April 21, 1995
PubMed

Insights

Mutations in the sulfonylurea receptor (SUR) gene cause familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), a disorder of unregulated insulin secretion. These genetic defects disrupt RNA processing and protein function, leading to abnormal insulin release.

Area of Science:

  • Genetics
  • Molecular Biology
  • Endocrinology

Background:

  • Familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is an autosomal recessive disorder.
  • PHHI is characterized by unregulated insulin secretion and is linked to chromosome 11p14-15.1.
  • The sulfonylurea receptor (SUR) gene regulates insulin secretion.

Purpose of the Study:

  • To investigate the genetic basis of PHHI.
  • To identify mutations in the SUR gene associated with PHHI.
  • To understand the molecular mechanisms underlying abnormal insulin secretion in PHHI.

Main Methods:

  • Gene mapping using fluorescence in situ hybridization (FISH).
  • Identification of SUR gene mutations in affected individuals.
  • Analysis of RNA processing and protein structure.

Main Results:

  • The SUR gene was mapped to chromosome 11p15.1.
  • Two distinct SUR gene splice site mutations were identified in nine PHHI families.
  • These mutations led to aberrant RNA processing and disruption of the SUR protein's nucleotide binding domain.

Conclusions:

  • Mutations in the SUR gene are the cause of abnormal insulin secretion in PHHI.
  • Aberrant RNA processing and protein disruption underlie the PHHI phenotype.
  • Genetic defects in the SUR gene are responsible for familial persistent hyperinsulinemic hypoglycemia of infancy.

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