Immunogenetic profile of MS

Associate Professor Jeanette Lechner-Scott

John Hunter Hospital, NSW

| Causes and Prevention | Genetics | Immunology | Project | 2006 | Investigator Led Research |


There is accumulating evidence that the incidence of multiple sclerosis is increasing especially in women. There is currently no explanation as to why this disease is mainly affecting women. The previous assumption, that MS is a T cell mediated autoimmune disorder affecting myelin has recently been challenged. There is now evidence for the role of B cells in MS as well as axonal and grey matter involvement in the disease process. People with MS are confused about the uncertainty of the pathophysiology of the disease and consequently their prognosis.

The use of new research technology that allows us to examine the expression of all known genes in the human genome has the potential to shed more light on this mysterious but potentially severely disabling disease. Gene expression analysis can determine which genes are switched on and which are switched off in people with MS compared to healthy controls. This enables us to find new pathways involved in the development of the disease and has the potential to identify and define disease subgroups that have different prognoses as well as different responses to individual treatment.

Project Outcomes

To date we have recruited 96 MS patients 94 aged-matched controls. Although not all of the cases are eligible for the study, this number corresponds to almost 2/3 of the expected target of 150 patients to be collected over the 3 years of the project. The 96 cases are comprised of 60 MS patients with relapsing remitting disease, 15 with a clinically isolated syndrome (CIS), 13 secondary progressive MS patients and 6 with primary progressive disease. All cases have been seen by one of the two neurologist investigators and have been and continue to be prospectively monitored in our specialized MS clinic. In addition, all relevant clinical details of the patients have been collected.

A subset of these patients samples (those with relapsing remitting MS) and an equal number of age and gender matched controls has been examined by gene expression analysis. Commercially available software analysis of the data did not reveal an overt difference in genome-wide gene expression between cases and controls. A bioinformatics technique developed in Newcastle by the Newcastle Bioinformatics Initiative, however, identified 953 genes, that could be used to differentiate relapsing remitting MS from healthy controls. From the 953 differentially expressed genes the top 100 genes were examined in more detail and found to be probably clinically relevant. Several of the 100 genes are known to be involved in immune recognition or activation, others in myelin formation.

These preliminary results need to be confirmed with a larger number of relapsing remitting MS patients and compared to the other types of MS (ie. CIS, primary progressive and secondary progressive form of MS). Patient recruitment will continue until we have met our target of 150.

Updated: 06 January, 2006


  • Associate Professor Jeanette Lechner-Scott, John Hunter Hospital, NSW

Grant Awarded

  • Project grant

Total Funding

  • $40,000


  • 2 years over 2006 - 2007

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Immunogenetic profile of MS