Genetic studies reveal new causes of severe obesity in childhood | Childhood Obesity and Overweight Kids
![]()
Childhood obesity is a condition where excess body fat negatively affects a child’s health or wellbeing. As methods to determine body fat directly are difficult, the diagnosis of obesity is often based on BMI. Due to the rising prevalence of obesity in children and its many adverse health effects it is being recognized as a serious public health concern. The term overweight rather than obese is often used in children as it is less stigmatizing.
The study, led by Dr Sadaf Farooqi from the University of Cambridge and Dr Matt Hurles from the Wellcome Trust Sanger Institute, looked at 300 children with severe obesity.
The team scanned each child’s entire genome looking for types of mutation known as copy number variants (CNVs). CNVs are large chunks of DNA either duplicated or deleted from our genes. Scientists believe this type of mutation may play an important role in genetic diseases.
By looking for CNVs that were unique in children with severe obesity, compared with over 7,000 controls (apparently healthy volunteers from the Wellcome Trust Case Control Consortium 2), they found that certain parts of the genome were missing in some patients with severe obesity.
According to Dr Farooqi: “We found that part of chromosome 16 can be deleted in some families, and that people with this deletion have severe obesity from a young age.
“Our results suggest that one particular gene on chromosome 16 called SH2B1 plays a key role in regulating weight and also in handling blood sugar levels. People with deletions involving this gene had a strong drive to eat and gained weight very easily.”
Dr Matt Hurles adds: “This is the first evidence that copy number variants have been linked to a metabolic condition such as obesity. They are already known to cause other disorders such as autism and learning difficulties.”
The findings also have implications for diagnosing severe childhood obesity, which has on occasion been misattributed to abuse. Some of the children in the study had been formally placed on the Social Services ‘at risk’ register on the assumption that the parents were deliberately overfeeding their children and causing their severe obesity. They have now been removed from the register.
“This study shows that severe obesity is a serious medical issue that deserves scientific investigation,” says Dr Farooqi. “It adds to the growing weight of evidence that a wide range of genetic variants can produce a strong drive to eat. We hope that this will alter attitudes and practices amongst those with professional responsibility for the health and well-being of children.”
Obesity is increasing throughout the world and is now recognised as a major global public health concern. Although the increased prevalence of obesity over the past 30 years is undoubtedly driven by environmental factors, genetic factors play a major role in determining why some people are more likely to gain weight than others.
Effects on health
The first problems to occur in obese children are usually emotional or psychological.Childhood obesity however can also lead to life-threatening conditions including diabetes, high blood pressure, heart disease, sleep problems, cancer, and other disorders. Some of the other disorders would include liver disease, early puberty or menarche, eating disorders such as anorexia and bulimia, skin infections, and asthma and other respiratory problems. Studies have shown that overweight children are more likely to grow up to be overweight adults.Obesity during adolescence has been found to increases mortality rates during adulthood.
Obese children often suffer from teasing by their peers. Some are harassed or discriminated against by their own family. Stereotypes abound and may lead to low self esteem and depression.
A 2008 study has found that children who are obese have carotid arteries which have prematurely aged by as much as thirty years as well as abnormal levels of cholesterol.
Causes
As with many conditions, childhood obesity can be brought on by a range of factors which often act in combination.
Genetics
Childhood obesity is often the result of an interplay between many genetic and environmental factors. Polymorphisms in various genes controlling appetite and metabolism predispose individuals to obesity when sufficient calories are present. As such obesity is a major feature of a number of rare genetic conditions that often present in childhood.
* Prader-Willi syndrome with a incidence between 1 in 12,000 and 1 in 15,000 live births is characterized by hyperphagia and food preoccupations which leads to rapid weight gain in those affected.
* Bardet-Biedl syndrome
* MOMO syndrome
* Leptin receptor mutations
* Congenital leptin deficiency
* Melanocortin receptor mutations.
In a children with early-onset severe obesity (defined by an onset before ten years of age and body mass index over three standard deviations above normal), 7% harbor a single locus mutation. One study found that 80% of the offspring of two obese parents were obese in contrast to less than 10% of the offspring of two parents who were of normal weight. The percentage of obesity that can be attributed to genetics varies from 6% to 85% depending on the population examined.