Links between VPA and autism

Staff and students in the Hughes Lab are (from left), Dr Stephanie Hughes, Erin McAllum, Kate...
Staff and students in the Hughes Lab are (from left), Dr Stephanie Hughes, Erin McAllum, Kate Linterman, Hollie Peacock, Sharleen Rae-Whitcombe and Katie Hope.

Masters Student Hollie Peacock spent last summer working with Dr Stephanie Hughes in the Department of Biochemistry on a summer project entitled "The role of Valproic acid in regulating gene expression in corticospinal projection neurons".

Hollie received a "Highly Commended" award for her summer project.

Valproic acid (VPA) is a drug used in the treatment of epilepsy and bipolar disorder.

However use of this drug during pregnancy can increases the risk of autism in children.

How VPA increases the risk of autism is not completely understood, although it does alter the development of neurons in the brain.

Our lab works on a protein that is expressed primarily in neurons and is critical for the development of neurons that control voluntary muscle activities.

Genetic changes associated with this important neuronal protein have recently been linked to susceptibility to autism.

The aim of my summer studentship was to investigate the link between VPA and this protein by testing whether VPA changes the way the protein is expressed.

The data obtained suggests VPA results in inappropriate expression of this protein in the support cells of the brain (astrocytes).

The link between this protein and autism as well as its apparent regulation by VPA, a drug known to induce autism, supports further studies and the screening of this protein for genetic variation in individuals with autism.

Additionally the genes this protein is regulating could be investigated in order to further understand the brain changes that are associated with autism.

For my Master's degree I am currently working on this protein in order to try gain a better understanding of its role in corticospinal projection neuron maintenance.

Corticospinal projection neurons in the brain are the cells which control voluntary muscle activities such as walking, breathing and the general movement of the body.

It is these neurons that are lost or destroyed in motor neuron disease, stroke and spinal cord injuries.

As stated, it is known that this protein is essential for the development of corticospinal projection neuron development.

However, it is not known whether it has a role in the maintenance of these neurons.

With the apparent vital role that this protein has in the brain further research is essential in order to understand its potential involvement in corticospinal neuron maintenance as well as determining its potential role in autism and motor neuron disease.

 

 

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