Role of MS Genetic Factors in Myelination

Start Term
End Term
Funding Amount
$300,000
Affiliation(s)
University of Alberta
Geographic Region(s) / Province(s)
Alberta
Researcher(s)
Dr. Anastassia Voronova
Research Priorities
Progressive MS
Impact Goal(s)
Understand and Halt Disease Progression

Summary:

  • Certain genetic changes can increase risk of multiple sclerosis (MS) severity and progression. 
  • Dr. Anastassia Voronova and team aim to examine a specific genetic mutation in a factor called fractalkine receptor (CX3CR1), which has been found in people with severe MS. The team will use a mouse model to determine whether this mutation reduces the production of new myelin, the protective coating of nerve fibres misappropriately targeted in MS, and whether this can be treated with therapies that enhance the production of myelin.
  • This research could lead to the development of tailored strategies to effectively target and halt disease progression in people living with MS.

Project Description: 
MS is a neurodegenerative disease that is primarily characterized by damage to the protective coating of nerve fibres, called myelin, in the brain and spinal cord. Strategies to produce new myelin and enhance repair (remyelination) are critical to halt disease progression and reverse neurological symptoms in people with MS.

This study builds on previous research from Dr. Anastassia Voronova’s group where they found that genetic mutations in a molecule called fractalkine receptor (CX3CR1) leads to impaired remyelination in a mouse model of MS. Recently, a mutation in the CX3CR1 gene was also found in people with severe MS. In this study, researchers will examine whether mice that carry the CX3CR1 mutation will have reduced ability to produce new myelin and determine if this process can be improved with therapies that enhance remyelination.  

Potential Impact: This research may provide insight into how genetic factors contribute to the individual differences we see in people living with in MS (e.g. differences in MS severity, rate of disability progression, treatment response). The findings of this research could lead to the development of targeted remyelination therapies for people with MS that carry mutations in the CX3CR1 gene.

Project Status: In Progress