These short projects are often highly novel and the results students obtain almost always open up new areas of investigation, with the knowledge gained invaluable for the development of future diagnosis and treatment.
This is certainly the case for a 2014/15 summer project on Spinocerebellar ataxia, carried out by Adrienne Morales, who received a scholarship launched after a fundraising night at Dunedin’s Fortune Theatre. The results of Adrienne’s project, working with Associate Professor Ruth Empson, have recently been published in the Journal of Neuroscience (May 2016), the number one cited journal in the field of Neuroscience.
Spinocerebellar ataxia (SCA) is part of a group of genetic disorders that destroy the cerebellum, the part of the brain crucial for our bodies to carry out coordinated movements and maintain balance. Generally, a person with ataxia has full mental capacity but progressively loses physical control of their body and will look unsteady walking, and clumsy due to a failure of their brain to finely control their muscles. Other symptoms include loss of coordinated hand and eye movement, and control of facial muscles used for speech. Abilities we take for-granted while making a cup of tea and talking to work colleagues in the staff room.
It is estimated that up to 5 in 100,000 people have a form of SCA but currently there is no known cure, instead the current therapies can only help manage symptoms, and the ‘treatment’ of in-coordination of ataxia mostly involves the use of adaptive devices, allowing the individual to maintain as much independence as possible.
Communication between different areas of the brain takes place by chemical messengers and receptors on cells that bind these messengers, activating the cells. Previous research has shown that a receptor found on cerebellar cells, the metabotropic glutamate receptor (mGluRl), has a critical role in how the cerebellum controls movement. The mGluRI has increased activity in the early stages of SCA and using a mouse model of human spinocerebellar ataxia type 1, (SCA1), Adrienne’s experiment aimed to answer whether this hyperactivity is helpful or harmful to the cerebellum. Adrienne discovered that if she injected mice with a drug to block the mGluRl, the normal movement and balance in ataxic mice was remarkably restored. Additional experiments completed by the Empson lab found mGluRl hyperactivity signals the beginning harmful cerebellar destruction and controlling the activity of mGluRl, might be a good way to treat the early symptoms of human ataxia.
Adrienne’s results have helped pave the way for exploring a new opportunity for early treatment of human ataxias leading to the publication:
“Prolonged Type 1 Metabotropic Glutamate Receptor Dependent Synaptic Signaling Contributes to Spino-Cerebellar Ataxia Type 1.”
Publication of a summer student’s research just two years from the completion of their study in the highly reputable Journal of Neuroscience is an amazing achievement for Adrienne and is an extremely exciting development for the Foundation.
This highlights the importance of the funds generated each year for summer research scholarships.