Table 1.
Some of the genetic mutations implicated in human obesity.
Rare but crucial mutations | |
Leptin | Produced by adipose tissue, leptin reduces food intake in rats if centrally injected. Mutation on chromosome 7 found in one obese family [72]. |
Leptin receptor | CNS receptor for leptin, Mutation on chromosome 1 associated with three cases of human obesity [73]. |
Melanocortin 4 receptor | CNS receptor involved in the suppression of appetite Mutations on chromosome 18 associated with several cases of obesity [74]. |
Prohormone convertase 2 | Converts proinsulin to insulin and C-peptide. Polymorphisms on Chromosome 20 are associated with a higher relative risk of NIDDM and obesity [75]. |
Mutations of probably minimal clinical impact | |
Uncoupling proteins | UCP 2 and 3 mapped close to 11q 13 which is linked to human obesity and hyperinsulinemia [76]. |
Insulin Receptor Substrate | Important in cell signalling mediating the action of insulin. Candidate gene because of putative (IRS-1) involvement in insulin resistance. Recent studies of polymorphisms in African Americans showed no link with obesity [77]. |
β3-adrenoreceptor | Polymorphisms of this adrenoreceptor have been associated with an increased relative risk of obesity in some studies of Asian and Caucasian populations [78]. |