EAST syndrome is a genetic condition that includes epilepsy, lack of voluntary muscle coordination including gait abnormality, deafness caused by hearing nerve problems and salt loss caused by kidney problems. It can result from a number of changes (mutations) in a gene called KCNJ10, which encodes a type of potassium ion channel. The mutations cause the channels to lose their function.Although there are 14 different mutations associated with EAST syndrome, one of these is much more frequent than the others and, interestingly, is found mainly in people of Pakistani origin.In order to establish whether a ‘founder effect’ – a loss of genetic variation occurring when a new population is established by a very small number of individuals – exists in the Pakistani population, researchers from University College London genetically analysed 12 people with EAST syndrome from seven families and compared them with ethnically matched healthy controls.The team found that all of the people with EAST syndrome had an identical group of genes very close to their KCNJ10 gene mutation, which they had inherited from one of their parents. This group of genes was completely absent in the healthy individuals. Based on additional information including the size of the Pakistani population and the frequency of EAST syndrome, the researchers estimated that this mutation must have occurred 20 generations or 500 years ago.The researchers, who published their findings in the scientific journal Molecular Genetics & Genomic Medicine concluded that knowing the mutation in a given population can help better diagnose the condition. This way, families can be offered better genetic counselling.Author: Dr Özge ÖzkayaClick here for more articles about brain science including genetics.
September 29th, 2016|