Thinness genes lead breakthroughs
Thursday September 1st, 2011
Major genetic discoveries revealed last night by British researchers include genes for extreme thinness.
The
thinness genes affect about one in every 2,000 people - about 30,000 people
in the UK - and make men 23 times more likely than others to be underweight,
researchers say.
They make women five times as likely as others to be under weight.
Researchers at Imperial College, London, UK, worked with the University of Lausanne, Switzerland, to study the DNA of more than 95,000 people for the research, reported in Nature.
The genetic mutation is a duplication of part of chromosome 16. Researchers have already found that absence of the genes is linked to morbid obesity.
Researchers found that about half the children with the "thinness genes" had been diagnosed as failing to thrive. About 25 per cent of those born with the thinness genes also suffer from the disabling tiny head syndrome, microcephaly.
Researcher Professor Philippe Froguel said the findings could lead to new treatments for obesity and also for eating disorders.
He said: "So far, we have discovered a large number of genetic changes that lead to obesity. It seems that we have plenty of systems that increase appetite since eating is so important – you can suppress one and nothing happens. This is the first genetic cause of extreme thinness that has been identified.
"One reason this is important is that it shows that failure to thrive in childhood can be genetically driven. If a child is not eating, it's not necessarily the parents' fault."
* A second UK study in Nature identifies 37 new genetic variants linked to human metabolism.
The researchers at the Wellcome Trust Sanger Institute, Cambridge, had set out to find genetic controls of substances in blood such as cholesterol, sugars, vitamins and amino acids.
Some of the variants are already known to be linked to kidney disease, diabetes and blood clotting, they said.
Researcher Dr Nicole Soranzo said: "Our findings provide new insights for many disease-related associations that have been reported in previous studies, including cardiovascular and kidney disorders, type 2 diabetes, cancer, gout, thrombosis and Crohn’s disease."
Fellow researcher Professor Tim Spector, of King's College, London, said: “We were able to show that variants in or near three genes are associated with a biochemical modification to peptides, a small protein that controls blood clotting. These same variants are variously associated with an increased risk for heart disease, thrombosis and other similar conditions."
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. S. Jacquemont et al. Nature, August 31 2011
Human metabolic individuality in biomedical and pharmaceutical research. Suhre K, Shin S-Y, Petersen A-K et al. Nature, August 31 2011 doi: 10.1038/nature10354
Tags: Genetics | Men’s Health | Women’s Health & Gynaecology
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