Gene Link to 130 Diseases

Monday, December 20, 2010

Genetic Culprits

A team of scientists from Wellcome Trust Sanger Institute and Edinburgh University claim that they have discovered a bunch of proteins which play a critical role in the development of more than 130 brain diseases. The study also established a link between diseases that occur and the evolution of human brain.

Human brain is a complex network of nerve cells interconnected by billions of pathways known as synapses. Within these synapses are proteins - similar to the components of an engine known as post-synaptic density or PSD. Studies of animal synapses have indicated that PSD could be important in human diseases and behaviour, however very little is known about it.

Led by Professor Seth Grant, scientists extracted PSDs from synapses of patients undergoing brain surgery and identified their molecular components by using a method known as proteomics. This helped them identify 1,461 proteins, each encoded by a separate gene. It enabled them to identify diseases which affect human synapses. The team found that over 130 brain diseases are associated with PSDs which include Alzheimer’s, Parkinson’s, epilepsies, autism, learning disability and other neurodegenerative disorders.

Scientists now have a list of over 1,000 suspected proteins, out of which every seventh protein is involved in a known clinical disorder and over half of them are repeat offenders. The findings have opened up new ways for tackling diseases. These proteins have deep roots in evolution and they play an indirect role in behavioural aspects such as learning and memory, emotions and mood as well as social behaviours and addiction or drug abuse. In order to help everyone, the team has released the entire data in public domain.

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