Griffith University Dean of Medicine Professor Simon Broadley has described a breakthrough in multiple sclerosis research as ___the biggest step forward in our understanding of the cause of MS in 20 years___.
In one of the largest human genetic studies ever undertaken, scientists have identified the major common genetic variants that contribute to the cause of the devastating neurologic disease.
The results of the study were published this week in the prestigious scientific journal, Nature.
They represent years of work by the International Multiple Sclerosis Genetics Consortium (IMSGC) involving more than 250 researchers in 15 countries.
Australian scientists played a significant role and more than 1000 Australians with MS contributed DNA samples.
Professor Broadley was part of the Australian and New Zealand consortium, ANZgene, a group of 18 researchers from fives states and New Zealand.
The study confirmed the presence of up to 57 MS genes with a remarkable pattern that shows that the reason some people get MS and others don’t is largely due to subtle, inherited differences in immune function.
It points to a pivotal role for T cells — the ‘orchestra leaders’ of the immune system and makes it clear that MS is primarily an immunologic disease.
“This confirms previous research which suggested MS occurs as a result of dysregulation within the immune system,” Professor Broadley said.
“With this knowledge researchers will be able to identify new potential therapies aimed at reversing this dysregulation, thereby offering new hope to people affected by this often debilitating disease.
“But it will take further research to fully interpret the significance of much of the information generated.”
ANZgene was led by Professor Graeme Stewart, a Clinical Immunologist in the Westmead Millennium Institute, University of Sydney.
Professor Stewart is one of five governance members of the IMSGC (with colleagues from Cambridge, Harvard, Yale and UCSF) and a member of the 11-person Project Direction Committee for the Nature study.
“Discovering so many new leads is an enormous step towards understanding the cause of MS,” Professor Stewart said.
“Most importantly, for people with MS, these genes also strengthen the case for immunologic treatments currently in clinical trials and point to new therapeutic approaches.”
Previous Australian research has suggested a link between Vitamin D deficiency and an increased risk of multiple sclerosis and the ANZgene consortium identified a vitamin D gene on chromosome 12.
The international study has now identified a second vitamin D gene and provides insight into a link between genetic and environmental risk factors.