Genetic mutation disorder found

The role of SHANK3 in autism disorders Wellington – Arabstoday A genetic mutation in autistic people that cuts communication between brain cells to about one-tenth the normal levels, researchers discovered. The study found that people with autism had a mutated protein, which explained their cognitive and behavioural difficulties. The protein helps brain cells transfer data through neurological pathways called synapses, researchers said. Principal investigator Johanna Montgomery, from Auckland University's Centre for Brain Research, said the mutated protein, called Shank3, provided exciting possibilities in the search for autism treatments. She said a treatment is still years in the making but that this discovery is a step closer than before. "Now we've got a focus for how we actually rescue this protein, to make it work appropriately again so that brain cells can communicate at the right levels," she said. The two-year study, published in The Journal of Neuroscience, was carried out by the Centre for Brain Research and Stanford University in the United States. Montgomery said researchers were beginning to understand the complex factors behind so-called autism spectrum disorders (ASD), which typically result in learning difficulties, lack of socialisation and repetitive behaviours. She said the condition was becoming more prevalent, partly due to more efficient diagnosis, with studies estimating it affects about one-in-82 children.