Endocrine Abstracts (2011) 27 S21

Genetic disorders of insulin signalling

Robert K Semple

University of Cambridge Metabolic Research Laboratories, Cambridge, UK.

Driven by the rising global tide of obesity, insulin resistance is already at pandemic levels, and is intimately associated with major pathologies including type 2 diabetes, ovulatory dysfunction and hyperandrogenism, the spectrum of fatty liver disease, and disorders of growth including cancer. Yet despite intensive study of prevalent forms of the condition, major questions remain both about the nature of the genetic predisposition to insulin resistance, and the mechanisms linking it to clinical disease. To circumvent the problem of discerning causation in associated clinical phenomena, we have adopted the strategy of seeking novel insulin signalling defects in rare and extreme disorders of insulin action, and have recently made a series of new discoveries of genetic abnormalities in insulin signalling using exome-wide sequencing. I shall review current knowledge of primary insulin signalling disorders, concentrating on novel disorders of growth, insulin resistance and hypoglycaemia, and illustrate the insights into prevalent pathophysiology to be gained from these rare conditions.

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