Research uncovers genetic clues to a multitude of brain disorders
New research has revealed the genetic origins of 133 brain disorders, paving the way for new ways of diagnosis and treatment for some of the most common debilitating diseases.
The findings come as part of a pioneering study into the genetic and chemical makeup of synapses, the parts of neurons that connect neighbouring cells together.
The scientists identified 1,461 proteins that make up the post-synaptic density (PSD) – an area that regulates the flow of information recieved from other nerve cells.
Mutations in 199 of these proteins were found to be responsible for a variety of neurological and psychiatric diseases such as Alzheimer’s and Parkinson’s, as well as some forms of epilepsy and autism. Many of these proteins are “repeat offenders”; implicated in numerous diseases.
We each have an estimated 100 million neurons in our brains, and up to 500 trillion synapses, and so even small mutations in the PSD’s genetic makeup can have drastic consequences for the individual.
The team from Edinburgh University and the Wellcome Trust Sanger Institute have released the catalogue of data they have collected to the public domain, in the hope that it may lead to the discovery of new treatments. Professor Grant, who led the study, outlined how this research might be built upon. “Since many different diseases involve the same set of proteins we might be able to develop new treatments that could be used on many diseases”.
With 1 in 14 adults over the age of 65 thought to suffer from Alzheimer’s, this research, published in the journal Nature, may be a vital step in maintaining levels of health in an increasingly aging population.
Alzheimer’s disease is associated with a build up of proteins (called plaques) which decrease the number of synapses in the brain. Research from Drexel University, Philadelphia, found an association between the symptoms of Alzheimer’s and a malfunction PSD.
Concern over Alzheimer’s has risen steadily over the years, such that the National Institute for Health and Clinical Excellence (NICE) has made available three medicines used to treat mild forms of Alzheimer’s disease, previously restricted only to those with late stages of the disease.