QBI Neuroscience Seminar: Targeting autism using mechanism based therapeutics- Can we cure autism and do we want to?
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- Dr Jason Howitt,
Florey Research Fellow and Lab Head, Protein Trafficking and Signalling Laboratory
The Florey Institute of Neuroscience and Mental Health, Parkville, VIC 3052
Title: Targeting autism using mechanism based therapeutics- Can we cure autism and do we want to?
Abstract: Autism spectrum disorders (ASDs) represent a diverse set of neurodevelopmental conditions affecting approximately 1 in every 100 children. The genetic heterogeneity of ASD presents a significant challenge for understanding the biology of the condition; with so many different ‘causes’, a key question is how can we develop treatments to target ASD?
A promising approach to this complex problem is to study single-gene variants associated directly with the disorder. Mutations in the gene PTEN are known to cause autism with macrocephaly (PTEN-ASD). To investigate pathway alterations occurring in the PTEN-ASD brain we have developed a novel developmental mouse model that has a number of phenotypes parallel to symptoms of PTEN-ASD patients.
By studying the brains of these PTEN-ASD mice we have identified mechanistic pathways that are altered in the developing brain. We demonstrate that a combination of drug treatments that target these perturbed pathways, can rescue the PTEN-ASD brain phenotypes. These findings show the utility of the PTEN-ASD mouse model as a pre-clinical tool for identifying disease modifying therapeutics in autism spectrum disorders.
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