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23 January 2007
The heartbreak with Rett Syndrome is that until a baby is about 18 months old, the symptoms are not evident and development appears normal. After this time, development in the child progressively regresses and skills necessary for movement, balance and learning are affected.
Six years ago a young Australian scientist named Greg Pelka began working with the Embryology Research Unit at the Children’s Medical Research Institute. Greg was investigating the MECP2 gene, which is necessary for movement, balance and learning, and how faults in this gene contribute to the symptoms of Rett syndrome.
Rett Syndrome affects one in 10,000 girls and is the second most severe form of mental disability, after Down Syndrome. “Rett Syndrome presents with stereotypical hand-wringing motions, intellectual impairment, loss of speech and reduced locomotor ability” says Dr Greg Pelka.
Dr Greg Pelka at the Children’s Medical Research Institute (CMRI) has now been awarded the prestigious Peter Doherty Biomedical Fellowship for four years by the National Health and Medical Research Council. Dr Pelka is currently holding a Rett Syndrome Research Foundation Post-doctoral Fellowship, the first time this has been awarded to an Australian scientist.
MECP2 controls the expression levels of various genes which in turn affect the levels of proteins in a cell. The presence of MECP2 appears to be crucial in the brain, given the neurological set of symptoms seen in Rett. Dr Pelka’s project aims to identify the precise regions of the brain where MECP2 is absolutely indispensable. “we will be studying mutations in localised regions of the brain to assess how those mutations impact the symptoms of Rett syndrome” says Dr Pelka.
If Dr Pelka can successfully identify MECP2 critical regions in the brain, the next step will be to identify which proteins are affected. “Very little work has been performed on the proteins associated with MECP2 deficiency and how they cause changes in brain function. With advances in technology, we should be capable of working out which proteins are causing the Rett Syndrome set of symptoms” says Dr Pelka who has chosen to continue his research at the CMRI.
“CMRI has fantastic resources: the recently acquired gel imager which can accurately detect protein level changes and the state-of-art Mass Spectrometry facility whis is able to identifiy these proteins. More importantly, many top-notch researchers at CMRI are willing to share their expertise and this will also be instrumental in our research.”
Despite the complexity of the disorder, Dr Pelka hopes his research could eventually combine with gene therapy techniques to provide an effective treatment to lessen the burden of of Rett syndrome on patients and their families.
CMRI conducts research to understand the genes important for health and development, and the underlying causes of disease.The goal is to gain the knowledge that may help to develop better treatments, cures or perhaps even prevention of childhood diseases. A substantial portion of the funding for this research comes through public donations and the Jeans for Genes campaign.
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