Gene ‘overdose’ Skinny
September 1, 2011 by staff
In a study in the journal Nature, researchers from Imperial College London, Great Britain and the University of Lausanne in Switzerland found that a duplication of part of chromosome 16 is associated with low weight.
Previous research has found that people who lack one copy of these genes are 43 times more likely to be morbidly obese.
“This is the first genetic cause of extreme thinness has been identified,” said Philippe Froguel of Imperial College of Public Health, who led the study. “It is also the first example of a deletion and a duplication of the genome has an opposite effect.”
He said one reason the latter finding was important to show that growth retardation in children may be genetically driven. “If a child is not eating, not necessarily the fault of the parents,” he said.
Normally, each person has a copy of each chromosome from each parent, giving him or her two copies of each gene. But sometimes the sections of a chromosome can be duplicated or deleted, which is an anomaly in the “dose” of genes, the researchers said in their study.
However, in one in 2,000 people, a portion of chromosome 16 is duplicated, so that men and women 23 times five times more likely to be underweight.
The low weight is defined as a body mass index (BMI) below 18.5 kg per square meter.
Froguel team examined the DNA of more than 95,000 people for study. They found that half of all children with a doubling in the study had been previously diagnosed with “failure to thrive” -?? Meaning that their rate of weight gain is significantly lower than normal.
A quarter of people with duplication had microcephaly, a condition in which the head and brain are abnormally small and is linked to neurological defects and lower life expectancy.
Froguel said scientists still have much work to do to get more information about the genes in this region, but their discovery could lead to potential new treatments for obesity and eating disorders.
“We now plan to sequence these genes and find out what they do, so we can get an idea of?? What is involved in appetite regulation,” he said.
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