Finding the cause of a genetic cause of extreme thinness might eradicate such things as oncology that has been identified,' said Professor Philippe Froguel from Imperial's school of public health, who led the study. Researchers of Imperial College London and the University of Lausanne in Switzerland said around one in 2,000 people have the duplicated genes, making men 23 times more likely to be underweight, and women five times more likely. Normally, each person has a copy of each chromosome from each parent, giving them two copies of each gene. But sometimes sections of a chromosome can be duplicated or deleted, resulting in an abnormal 'dosage' of genes, the researchers explained in their study 'It's also the first example of a deletion and a duplication of one part of the genome having opposite effects. 'The discovery has important implications for diagnosis in children's health. A non-specific condition in children known as 'failure to thrive' where their rate of weight gain is significantly lower than normal - has been diagnosed in half of all children with the genetic duplication, the study showed. It means 'failure to thrive' can be genetically driven. 'If a child is not eating, it's not necessarily the parents' fault,' said Prof Froguel. He added that scientists still have much work to do to find out more about the genes in this region, but their discovery could eventually lead to new potential treatments for obesity and appetite disorders. Making genes do a work-out why gene duplication in this region causes thinness, it might throw up new potential treatments for obesity and appetite disorders,' he said. 'We now plan to sequence these genes and find out what they do, so we can get an idea of which ones are involved in regulating appetite. Froguel's team examined the DNA of more than 95,000 people for their study for which being underweight was defined as having a body mass index (BMI) below 18.5 kg per metre squared. The research also showed a quarter of people with the duplication had microcephaly, a condition in which the head and brain are abnormally small and which is linked to neurological defects and shorter life expectancy. Genes are stretches of DNA that provide the coded instructions for making proteins. They generally come in pairs and are housed in the chromosomes, the packaged bundles of DNA inherited from each parent. However sometimes parts of either chromosome in a pair can be deleted or duplicated. When this happens, there can be too many copies of a certain gene or too few.As a result, a gene might be abnormally active or not active enough.As regards the 'skinny gene', Prof Froguel said: 'The dogma is that we have two copies of each gene, but this isn't really true. 'The genome is full of holes where genes are lost, and in other places we have extra copies of genes. In many cases, duplications and deletions have no effect, but occasionally they can lead to disease. '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.' Duplications in the same region have also been linked to schizophrenia, while deletions are associated with autism.
Sunday, September 4, 2011
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