Top of page
Health

Study identifies single gene behind gene network linked to autism

Dna molecule on a blue background

Griffith University researchers have identified a single gene that regulates a network of genes linked to causing autism and intellectual disability.

The findings are the culmination of a three-year project conducted by the Griffith Institute for Drug Discovery’s (GRIDD) Associate Professor Stephen Wood, along with Griffith graduates Maria Kasherman and Susitha Premarathne.

The team worked in collaboration with researchers from the University of Chicago, Northwestern University, University of Queensland and University of Adelaide.

‘Usp9X Controls Ankyrin-Repeat Domain Protein Homeostasis during Dendritic Spine Development’ has been published in Neuron.

The study revealed that a gene called USP9X regulated a network of proteins (called ANKRDs) that modify cell structures that regulate how nerves communicate with one another and interpret information.

This research defined a critical period of early postnatal brain development where USP9X regulation of ANKRDs was critical to normal function. Mutations in the ANKRD genes are associated with intellectual disability and Autism Spectrum Disorder but also bipolar disorder and schizophrenia.

“Currently there are over 1000 genes associated with neurodevelopmental disorders such as intellectual disability and autism,” Associate Professor Stephen Wood said.

“The economic cost of these disorders can rival that of diseases such as cancer, due to their prevalence and the fact that they are lifelong afflictions.

The study was conducted in vitro with the hope that model would be developed further to test interventions in mice as a step toward therapeutic approaches in patients.

You might also like

Doctor consulting with patient Back problems Doctor consulting with patient Back problems

Solution offers relief for Australians struggling with chronic back pain

Long-term sufferers of chronic back pain experienced dramatic reductions in…

Young Downs Syndrome Man Baking Cupcakes In Kitchen At Home Young Downs Syndrome Man Baking Cupcakes In Kitchen At Home

Study reveals lifespan morbidities in people with Down Syndrome

New research from the Institute of Psychiatry, Psychology & Neuroscience…

man holding his painful knee man holding his painful knee

Study raises doubts on the effectiveness of multiple osteoarthritis treatments

Recruiting osteoarthritis patients with a lot of pain to clinical…

girl is sitting in the room while learning new lesson via online girl is sitting in the room while learning new lesson via online

Social media platforms disappointing failure in supporting autistic users

While understanding and awareness of autism has majorly progressed in…