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Regional differences in insulin receptor function in Werner's syndrome
H Yamasaki1, S Akazawa, S Okuno
1First Department of Internal Medicine, Nagasaki University, School of Medicine, Japan.
Diabetes Research and Clinical Practice
|February 1, 1992
Summary
Werner's syndrome, a premature aging disease, shows reduced insulin receptor function in skin cells from affected areas. This suggests early genetic expression impacts insulin resistance regionally.
Area of Science:
- Endocrinology
- Genetics
- Dermatology
Background:
- Werner's syndrome is a genetic disorder causing premature aging and insulin resistance.
- Clinical signs often appear on the face and extremities, sparing the trunk.
Observation:
- Fibroblasts from forearm (sclerodermoid) and abdomen (normal) of a Werner's syndrome patient were analyzed.
- Insulin receptor binding and amino acid uptake were compared between normal controls and the patient.
Findings:
- Forearm fibroblasts in the patient showed significantly lower insulin binding compared to abdominal fibroblasts.
- Reduced insulin binding was due to fewer receptors, not altered affinity.
- Insulin-stimulated amino acid uptake was impaired in acral fibroblasts.
Implications:
- Regional differences in fibroblast insulin receptor function exist in Werner's syndrome.
- This indicates early phenotypic expression of the genetic defect in insulin receptor function.
- Findings may inform understanding of localized insulin resistance in premature aging syndromes.