Which genes are involved in progressive MS?

Commencing 2018, Associate Professor Justin Rubio and his Co-investigators Associate Professor Stephen Leslie and Professor Michael Barnett were awarded a Project Grant funded by the Trish Foundation for two years investigating the DNA from single cells in the brain to better understand progressive MS.

A/Prof Rubio and his team have isolated and analysed DNA from nerve cells and myelin producing cells from the brain tissue of people with progressive MS. Using cutting-edge technology, the team have investigated the entire DNA content (whole genome) of 52 individual nerve cells and myelin producing cells, with a further 22 genomes underway and more to come. They are currently in the process of analysing the data using state-of-the-art computational tools tailored to analyse individual cells.

The team has discovered that nerve cells and myelin producing cells affected by MS have similar numbers of genetic mutations, but for both cell types, there is preliminary evidence suggesting that the rate of mutations is higher in tissue containing lesions than tissue not affected by lesions. The work from this project will hopefully improve our understanding of the biological processes underpinning neurodegeneration, which may pave the way for the development of targeted therapies for progressive MS.

The team is preparing to publish their results in a scientific journal and have also presented their work at a national conference. This project grant helped A/Prof Rubio leverage a further $1 million from the NHMRC to follow up this work.

A/Prof Rubio’s Research Project was generously supported by The Woodend Foundation.