MS Week 29th April – 5th May
In fact, there is little evidence to-date that there is a hereditary basis for most types of MS. However, there is a strong body of evidence developing about the genetic alterations which may impact on certain types of progressive MS. Although the cause of MS is not yet conclusively known, both genetic and environmental factors and their interactions are known to be important. Here are some examples of current studies which have been reported in the last 12 months.
In the Journal of Clinical Investigation, an international team of scientists led by Dr Evan Reid at the University of Cambridge, and Dr Stephan Zuchner from the University of Miami, report that alterations in the gene known as reticulon 2 on chromosome 19 causes a form of HSP, a condition characterised by progressive stiffness and contraction of the legs, caused by selective and specific degeneration of axons.
The team identified three alterations in the reticulon 2 gene as causing a type of HSP. In one case, the alteration included an entire deletion of the gene. In addition, the researchers showed that reticulon 2 interacts with another gene, spastin. Alterations in this latter gene cause the most common form of hereditary spastic paraplegia.
In another study three novel multiple sclerosis (MS) genetic susceptibility loci have been identified, according to a meta-analysis published in the December 2011 issue of the Annals of Neurology. Nikolaos A. Patsopoulos, M.D., Ph.D., from the Brigham and Women’s Hospital in Boston, and colleagues investigated MS susceptibility and explored the functional consequences of novel susceptibility loci.
“These results extend the list of loci associated with MS from earlier genome scans and confirm theoretical predictions that increasing sample sizes will lead to additional discoveries given the magnitude of effect seen for non-major histocompatibility complex MS susceptibility loci,” the authors write.
Around 30 genetic risk factors for developing multiple sclerosis have been discovered by a UK-led team. It brings to more than 50 the total number of genetic clues to the disease. The research, published in Nature, August 2011 will help identify risk factors and perhaps future treatments or even a cure, said the MS Society. Most of the genes are linked to immunity, backing the idea that the disease is triggered when the immune system turns against itself.
Genes are only part of the story, however, with other factors, such as vitamin D or a viral infection, thought to play an important role.
Simon Gillespie, Chief Executive of the MS Society comments: “By identifying which genes may trigger the development of MS, we can identify potential ‘risk factors’ and look at new ways of treating, or even preventing, the condition in the future.”