Scientists discover new form of obesity in Pak children

LAHORE: A joint effort of scientists from Lahore (Pakistan), London (UK) and (Lille) France have discovered flaws (or variants) in a new gene called ADCY3 causing severe obesity early in life. This discovery opens up new therapeutic possibilities to tackle obesity.

The new study is published in Nature Genetics. It is part of their continuing efforts to identify new genes leading to obesity in children from Pakistan. Obesity due to single defect (mutation) in a gene, is a rare event and has so for been identified in 3.5% of severely obese cases. Previous investigation into the children by the same group of scientists led to the identification of genetic basis of severe obesity in 30% of children from Pakistan. Dr Sadia Saeed, a scientist at the University of Lille, France, who fast identified the deleterious mutations in the new gene, said, "a high degree of consanguinity in Pakistan has led to identification of this high percentage of mutations in the genes that are expressed only it both copies (alleles), (one coming from each parent) are flawed or mutated." Consequently, parents of the affected child who have only a single copy of the mutated gene are of normal body weight.

The ADCY3 gene is thought to play its role by affecting an important part of the brain called 'hypothalamus', to modulate physiological functions related to appetite control and energy balance. When harmful mutations occur in this gene, its protein, which is an enzyme, is no more able to perform its normal function in controlling food intake resulting in abnormal weight gain and fat accumulation of fat.

The same group of scientists has identified almost 50 children suffering from congenital leptin deficiency due to defective leptin gene that also causes severe obesity in children from infancy. This is the only type of obesity that can be reversed completely through treatment with the hormone, leptin.

Dr M. Arslan, a distinguished Professor at the University of Lahore and Forman Christian College, who led the Pakistani team of scientists, commented, "Finding of this new gene linked to obesity, has opened up a new era in identification of innovative treatment options for subjects suffering from obesity, by improving their appetite, hence body weight."