Protein expression in immune cells associated with MS risk

Professor Helmut Butzkueven

University of Melbourne, VIC

| Better treatments | Epidemiology | Genetics | Incubator | 2015 | Investigator Led Research |


Although the cause/s of MS remain unknown, both environmental and genetic associations with MS have been confirmed. Recent genetic experiments have resulted in the discovery of 110 “risk genes” for MS, and many of these are known to influence the function of the immune system. The next step is to identify the mechanisms of how these genes cause MS susceptibility, whether each gene is working alone, or if multiple genes are interacting to increase a person’s risk of developing MS.

Professor Butzkueven’s project is a first step towards answering this question, and aims to investigate whether several key genes of interest also affect the expression of immune cells that have been implicated in MS.  Early work has shown preliminary evidence that this may be the case, however, further work is needed to determine the exact effects that these genes are having on the expression of other genes and proteins. This project will specifically examine two key genes, known as AHI-1 and CLECL1, to determine whether their expression in immune cells changes depending on whether an individual also has known MS risk genes. This project will provide important information about the potential role of these genes in immune system function, and determine if these genes are good candidates for more detailed study.

Progress to Date

Using DNA and cell samples from 23 people, Professor Butzkueven’s team has shown that a change in the FCRL3 gene causes immune cells to make less of the FCRL3 protein. Given that FCRL3 is important in transmitting signals between B cells in the immune system, these results suggests that changes in the B cell signalling could contribute to an increased risk of MS.

Professor Butzkueven also showed that a change to the AHI-1 gene leads to lower levels of the AHI1 protein in monocytes, another type of cell in the immune system. Both these observations suggest that these genetic differences have functionally important effects in modulating the immune system which may increase an individual’s risk of developing MS.

These findings illustrate the importance of studying the relationship between individual MS risk genes and the impact they have on immune cells as they can give important insight into the immunological functions that may lead to MS. In this context, the data from this study can form the basis of studies investigating the immunological functions in people which carry these genetic variations.

Updated: 14 June 2016

Updated: 03 January, 2015


Grant Awarded

  •  Incubator Grant

Total Funding

  • $21,000


  • 1 year over 2015

Funding Partner

  • Anonymous Donor
Read More

Newsletter subscription

  • Enter your details

Protein expression in immune cells associated with MS risk