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Hong KongHealth & Environment

A first for Hong Kong: researchers uncover how gene mutations can lead to brain disorders

University academics hope their research will eventually lead to development of medication to treat the likes of autism and intellectual disabilities

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Professor Zhang Mingjie demonstrates how to separate mutant protein from the normal variety. Photo: Dickson Lee
Elizabeth Cheung

Researchers from the University of Science and Technology have identified for the first time how mutations of two known genes can lead to brain disorders.

The findings could provide new directions for scientists in developing treatment for nervous system disorders such as autism and intellectual disability, which cannot now be completely cured.

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The research led by Zhang Mingjie, a professor in the university’s division of life science, found out how postsynaptic density(PSD), a protein layer in neuron communication structures called synapses, formed in a different way in mice with autistic symptoms.

While PSD, a unit that receives and processes signals and is essential for cognition, has been known to scientists for 60 years, little was known about how it was formed and the consequences if it developed in an incorrect way.

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“Diseases emerge if there is just a slight change in the formation of PSD,” Zhang said.

It was discovered in the university study that two types of proteins – SynGAP and PSD-95 – could not combine or develop in desirable quantities to maintain balanced PSD signalling.

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