Researchers have discovered mutations in a gene related to obesity, offering new treatment possibilities in the fight against the global epidemic. The new study, led by Imperial College London focused on children suffering from obesity in Pakistan, where genetic links to obesity had been previously identified by the team in about 30% of cases.
This link of genes to obesity is due to recessive mutations that are more likely to be inherited and passed on to children in a region like Pakistan because of the high level of consanguinity (inter-family relationships) in its population. This is because parents who are closely related are more likely to be carrying the same mutation, so a child may inherit from both sides, causing the mutation to take effect.
This new study used genome sequencing and found mutations in one specific gene related to obesity: adenylate cyclase 3 (ADCY3). When mutations occur in ADCY3, the protein it codes for forms abnormally and doesn't function properly. This leads to abnormalities relating to appetite control, diabetes, and even sense of smell.
Early studies into ADCY3 tested mice that were bred to lack that gene, found that these animals were obese and also lacked the ability to smell, known as anosmia. When we tested our patients, we found that they also had anosmia, again showing a link to mutations in ADCY3.
ADCY3 is thought to impact a system that links the hypothalamus to the production of hormones that regulate a wide variety of biological functions, including appetite. This research also found a link between ADCY3 mutations and obesity, a
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