Great progress in genetic
attracts further funding
Trevor Kilpatrick and his team have been funded for two years, supported by the
Trish Foundation, to investigate the role of a particular gene in MS
Professor Kilpatrick, from the Florey Institute of Neuroscience
and Mental Health in Victoria, has been investigating the role of the MERTK
gene in a person’s risk of developing MS.
The team have previously identified a
rare variant in this gene that is strongly linked to MS susceptibility, but
specialised analysis has shown that this change itself is unlikely to be
causing the increased risk of MS. Therefore this project will use a range of
techniques to find the causes underlying this change within the MERTK gene.
This project is important not only for understanding more about the specific
role of the MERTK gene, but this project also provides a template for the way
all the MS susceptibility genes will need investigating, in order to accurately
map the genetic factors that determine a person’s risk of MS.
Kilpatrick and colleagues have made great progress in their analysis so far and
have mapped sequencing data from a subset of 65 people with MS. So far, they
have been able to identify 73 changes within the MERTK gene that meet the
criteria for undertaking further analysis for association with MS
The team is now expanding the scope, to test a
larger group of people (over 3000) and families with MS and analysis is
ongoing. They have identified that some of the individuals with MS harbour
changes within the MERTK gene that have not previously been described. Some of
these changes appear to be linked with risk of developing MS in some families
with MS. Professor Kilpatrick and colleagues are currently conducting further
analysis to determine the extent of this association in the wider population of
individuals with MS.
This work represents the first stage of mapping for
the role of the MERTK gene. This work has laid the foundations for ongoing work
to determine how the genetic changes actually change the characteristics of immune
cells and increase susceptibility to MS. This functional work is the topic of a
highly competitive grant from national MS Society of the USA that was recently
awarded to Professor Kilpatrick and his team. Working with a group of
international collaborators, Professor Kilpatrick will look at whether abnormal
MERTK has an effect on immune cells and their response to inflammation.
the specific genetic changes truly linked with MS risk are identified, this
will direct future work on the potential of MERTK as a target for developing
new options to treat MS. Further, understanding whether MS risk is inherited
through the MERTK gene will help to determine whether undertaking MERTK genetic
testing for family members of MS patients is practical.