Obesity linked to newly discovered mutation in gene, offering new possibilities for treatment

obesity linked to newly discovered mutation in gene offering new possibilities for treatment

A research led by scientists at Imperial College, London led to the discovery of mutations in a gene related to obesity. This will offer new treatment possibilities to fight against the global epidemic.

Research was done to discover the genetic causes of obesity and other related conditions, which is expected open new doors for the cure of obesity. At present, there are a just few medicines available or are being tested to treat obesity, but information about specific mutations leading to the condition will allow scientists to create gene-targeted medicines.

The study was done on children suffering from obesity in Pakistan, where genes have been linked to obesity in about 30% of the cases. This genetic linkage is thought to have developed due to recessive mutations that have a high probability of getting inherited in children in areas like Pakistan, where there is high level of consanguinity (inter-family relationships) within the society. This occurs because parents, who are closely related, have high chances of carrying the same mutation that can be inherited by the child from both the sides; thereby, allowing the mutation to express itself.

Genome sequencing was used to find mutations in a specific gene related to obesity: adenylate cyclase 3 (ADCY3). Mutations in this gene result in the formation of faulty proteins, which do not function properly, causing abnormalities in appetite control, diabetes and even sense of smell.


In the earlier studies done to determine the role of ADCY3 genes in obesity, mice lacking the gene were bred. It was found that these animals were obese and did not have the ability to smell, a condition known as anosmia. When the subjects of this study were tested, they too displayed anosmia, indicating a mutation in ADCY3. The gene is thought to affect a system that links hypothalamus of brain with hormone production that is responsible for regulating numerous biological functions like appetite.

After the mutations were identified in Pakistani patients, scientists entered their results into GeneMatcher, which is a kind of ‘dating agency for genetics’ and came in contact with Danish scientists studying the effects of ADCY3 gene in a European obese patient, who had inherited different mutations on the ADCY3 gene from both of his parents. Therefore, the gene was not functioning properly in him, causing obesity.

The scientists also studied the Inuit population of Greenland, which is not consanguineous culturally, but has a small population with consanguinity, and therefore, have high chances of inbreeding. This study also indicated a relationship between ADCY3 gene and obesity.

These researches have paved a novel path for developing new treatment methods to manage obesity. Their study indicated that obesity does not always result from gluttony, as is generally suggested.