UGR Blog Post #1 – The Impact of PTEN on Synapse Morphology

Dr. Marik and I are working on research revolving around The Impact of PTEN on Synapse Morphology. We are focusing on the PTEN gene because out of the 500+ genes that affects where on the autism spectrum an individual is, PTEN is mutated in approximately 25% of people with Autism. This is the highest percentage for any gene associated with Autism; this mutation causes PTEN to be reduced (called PTEN-ASD). What the PTEN gene does is send a signal to the mTorr pathway to stop cell growth; what happens in individuals with Autsim is that this PTEN gene is not functioning properly and cells start growing more than they should. Neurons start to have axons that are abnormally long, causing Macrocephaly within individuals and creating inappropriate connections during development.

Dr. Marik and I wish to know if you can improve the removal of connections (axons) after initial development by reintroducing PTEN in later development. We will perform this experiment by using morpholino to modify the expression of the PTEN gene in zebra fish to simulate the development of a brain that has reduced PTEN. After a few days of development, the morpholino will be diluted and the PTEN gene should be reintroduced in the zebra fish. We will ascertain these effects by imaging fluorescently labelled excitatory neurons in zebra fish embryos over several days – when PTEN is reduced in early development and restored in later development. Throughout the experiment we will be using the wild type zebra fish with normal PTEN as our control group. Dr. Marik and I hope to see improved pruning when PTEN is restored.

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