New Links Found Between SH2B1 and Obesity
We have recently discovered that defects in the SH2B1 gene can cause weight gain from a young age. SH2B1 is an adaptor molecule through which hormones such as leptin and insulin send signals from the bloodstream into target tissues such as neurons in the brain.
SH2B1 defects/mutations were found in patients with early onset obesity, but not in normal weight people. When studied in cells these mutations disrupted hormonal signalling. In clinical studies, patients had an increased drive to eat, resistance to the effects of circulating insulin and were slightly shorter than expected. These studies establish the importance of SH2B1 in the regulation of weight and suggest that finding drugs that target SH2B1 could be important for weight problems and diabetes.