LAHORE: A joint effort of scientists from three countries has discovered a new form of obesity in Pakistani children.

The scientists from Lahore (Pakistan), London (UK) and Lille (France) 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, published recently in Nature Genetics, is part of the scientists’ continuing efforts to identify new genes leading to obesity in children in Pakistan. The experts said obesity due to single defect (mutation) in a gene is rare and has so for been identified in three per cent to 5pc of severely obese cases.

Scientists from three countries discover new form of obesity in Pakistan

They said previous investigations on such children by the same group of scientists had led to the identification of genetic basis of severe obesity in 30pc of children in Pakistan.

Dr Sadia Saeed, a scientist at the University of Lille, France, who first identified the deleterious mutations in this 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 if 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.

Dr M Arsalan, a 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.”

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

Dr Jaida Manzoor, associate professor of paediatric endocrinology and diabetes at Children’s Hospital Lahore, looks much perturbed with respect to provision of medicine to children in Pakistan.

She said the prevalence of obesity was increasing rapidly worldwide, affecting not only the developed countries, but also creeping into underdeveloped countries such as Pakistan where malnutrition and stunting were already major issues.

“Obesity is largely attributed to the consumption of energy-dense food and a decrease in energy expenditure,” she added.

Obesity, however, has both environmental and genetic predisposition accounting for 40pc to 70pc risk. Still most of the genes involved are not known. Interestingly, she said, majority of such and other genetic causes of monogenic obesity were reported from cohort of Pakistani origin -- identifying genetic basis of severe obesity in children from consanguineous population.

“We are lucky in getting successful treatment of our three leptin-deficient severe obese patients in collaboration with Paediatric Endocrine Obesity Unit of Ulm, Germany, Prof Dr Martin Wabitsch and Dr Julia Schnurbein.”

Unfortunately, recombinant leptin is still an orphan drug, is very costly with no arrangements so far been made to deliver it to severely obese patients in Pakistan where majority of cases are found, she lamented.

Published in Dawn, January 27th, 2018