Hope in treating disorder of brain

Australian scientists have uncovered a new genetic cause of an incurable brain disorder, in a world-first discovery that paves the way for future treatments.

A genetic mutation that triggers a “traffic jam” in our brain cells has been linked to microcephaly, a rare condition where babies develop smaller brains and suffer lifelong neurodevelopmental issues.

Associate Professor Grant Dewson, from the Walter and Eliza Hall Institute of Medical Research in Melbourne, said the “exciting” discovery gave researchers a “potential drug target” and could lead to treatments. He said the study was the start of a long road, but the idea of rescuing brain development – once thought impossible – was amazing.

Study co-author Dr Hoanh Tran said most children with microcephaly required “24hour care”.

“The impact of this disorder is not just for the child, but for the family as well,” he said.

Dr Tran said their preclinical models showed mutations to a gene called Trabid disrupted brain development by stopping neurons from moving where they needed to go.

Prof Dewson said our brain was made up of billions of cells and neurons, which needed to connect – in the right places – “for us to be able to think, to act and to move”.

He likened damage to those connections to a city with “traffic lights stuck on red”.

“A transport network in a city, for example, needs to be highly connected,” he said. “If connections aren’t made, the trains don’t reach the station effectively and then obviously the city doesn’t function effectively.

“A brain is just a significantly scaled-up version of that.”

Dr Tran said they believed Trabid, if defective, sabotaged these connections by harming a neuron’s cytoskeleton (literally ‘the cell’s skeleton’), which is used to move around the brain to reach other neurons.