Endocrine Abstracts

Single gene defects causing severe insulin resistance have been elucidated either by directed screening of candidate genes (INSR, AKT2, PPARG) or by detailed linkage mapping in large pedigrees (BSCL2, AGPAT2, LMNA), and study of patients harbouring these known defects continues to yield important insights into insulin’s action in health and disease. However a large proportion of the genetic defects leading to severe insulin resistance in slim subjects remains undiscovered...