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[Type C insulin resistance]

N Hashimoto1, H Makino

  • 1Second Department of Internal Medicine, Chiba University School of Medicine.

Nihon Rinsho. Japanese Journal of Clinical Medicine
|October 1, 1994
PubMed
Summary
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Type C insulin resistance involves normal insulin binding but reduced insulin receptor kinase activity due to mutations. These genetic defects in the insulin receptor kinase domain are often inherited as an autosomal dominant trait.

Area of Science:

  • Endocrinology
  • Molecular Biology
  • Genetics

Background:

  • Type C insulin resistance presents with normal insulin binding but diminished insulin receptor kinase activity.
  • Classifying insulin resistance states can be challenging, particularly with intracellular beta-subunit mutations.

Observation:

  • This review focuses on intracellular beta-subunit mutations of the insulin receptor that decrease kinase activity.
  • Two cases of typical Type C insulin resistance are detailed: one with a tyrosine kinase domain deletion and another with a Glycine-1008 to Valine mutation.

Findings:

  • Mutations within the insulin receptor's kinase domain are associated with Type C insulin resistance.
  • Specific mutations, such as tyrosine kinase domain deletion and Glycine-1008 to Valine, exemplify this condition.

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Implications:

  • The study suggests that insulin resistance linked to these specific insulin receptor kinase domain mutations is inherited.
  • Autosomal dominant inheritance is proposed for insulin resistance associated with these mutated insulin receptor genes.