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Young Aussie Sheds Light

on MS Gene

A young Australian scientist has added to the debate over a genetic variant thought to increase MS susceptibility. Attila Szvetko has shown that a specific change within the gene encoding for human protein tyrosine phosphatase receptor type C (also known by the more palatable acronym PTPRC) does not play a role in the Australian Caucasian population.

This is despite previous studies reporting its role in increasing susceptibility to MS in German patients. Why could this be? It may be that there just weren’t enough samples to detect the modest differences that contribute to disease susceptibility in Australian Caucasians (Attila used 205 MS and 205 non-MS samples). It could also be possible that genetic variations within this gene differ between races.

MS is a genetically complex disease. It is likely that no single gene in isolation is the sole driver of MS susceptibility. For this reason, big genetics studies have more power to identify genes with modest effects in MS.

World-first ground-breaking findings in understanding the genetics of MS were announced in 2009. ANZgene, the Australasian genetics consortium, which is part of the International MS Genetics Consortium analysed over 18,000 samples from people with MS from around the world. Both these studies are a rich source of data in understanding the role of specific genes in MS including PTPRC.

Attila has added a new finding to the pool of knowledge surrounding this gene. This work was part of his thesis at Griffith University under the supervision of Professor Lyn Griffiths.

Additional findings

In science reporting what isn’t interesting is just as important as following promising leads. It can save lots of time, money and effort. Dr Attila Svetko has shown that two specific genetic variants appear to play no role in MS susceptibility.

This type of information is important in directing the next phase of research from the ANZgene genetics discoveries. As researchers prioritise the genes for further interrogation, it helps to know which are unlikely to yield. Attila’s published paper in the Neurological Research journal suggests that two specific genetic variants in the toll-like receptor 3 gene is unlikely to affect MS susceptibility.

So what now for this high-achiever? Attila has been accepted into medical school starting in 2009.

Attila’s research was funded by a Trish Multiple Sclerosis Research Foundation Postgraduate Research Scholarship.

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