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