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Related Experiment Videos

Familial hyperproinsulinemia associated with NIDDM. A case study

H Oohashi1, H Ohgawara, K Nanjo

  • 1Diabetes Center, Tokyo Women's Medical College, Japan.

Diabetes Care
|October 1, 1993
PubMed
Summary

This study identifies a genetic defect in proinsulin processing in an elderly patient with type 2 diabetes. This inherited defect, combined with aging, contributes to diabetes development.

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JAMA·1996

Area of Science:

  • Endocrinology
  • Genetics
  • Metabolic Disorders

Background:

  • Non-insulin-dependent diabetes mellitus (NIDDM) in the elderly can be complex.
  • Fasting hyperinsulinemia suggests underlying insulin pathway defects.

Observation:

  • Studied an elderly NIDDM patient with high fasting insulin levels.
  • Clinical, biochemical, and genetic analyses were performed on the patient and family members.

Findings:

  • Normal contrainsulin hormone levels and no insulin resistance were observed.
  • Elevated levels of abnormal proinsulin intermediate (AC proinsulin) were detected.
  • A point mutation (Arg-->His at residue 65) in the insulin gene was identified in the patient and 4 family members across 3 generations.

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Implications:

  • The identified genetic defect in proinsulin processing is linked to NIDDM.
  • Aging and inherited metabolic stress interact to promote diabetes mellitus development.