Scientist in the lab doing experiments

New research into genetic markers and MS progression

July 4, 2023 | Claire Frew

esearchers have discovered the first genetic marker associated with a faster progression of MS, paving the way for new treatments to be developed.

The global study of more than 22,000 people with MS involved 70 global institutions led by scientists from the University of Cambridge and the University of California San Francisco (UCSF) in the US.

The immune system of people with MS attacks their brain and spinal cord, resulting in symptoms such as fatigue and problems with vision, movement, sensation and balance.  While treatment has been developed to tackle symptoms, none can prevent its progression.

Researchers assessed genetic factors influencing MS severity.  They combined data from 12,584 people with MS, linking genetic variants to particular traits such as the time it took for each individual to advance from diagnosis to a certain level of disability.

One genetic variant was found to be associated with faster disease progression. The variant sits between two genes with no prior connection to MS, known as DYSF and ZNF638. The first repairs damaged cells and the second helps control viral infections.

Prof Sergio Baranzini at UCSF, who is co-senior author of the study, said: “Inheriting this genetic variant from both parents accelerates the time to needing a walking aid by almost four years.”

Dr Adil Harroud, lead author of the study and former postdoctoral researcher in the Baranzini Lab at UCSF, added: “These genes are normally active within the brain and spinal cord, rather than the immune system.

“Our findings suggest that resilience and repair in the nervous system determine the course of MS progression and that we should focus on these parts of human biology for better therapies.”

Professor Stephen Sawcer from the University of Cambridge and Cambridge University Hospitals NHS Foundation Trust, said: “Understanding how the variant exerts its effects on MS severity will hopefully pave the way to a new generation of treatments that are able to prevent disease progression.”

The research team is now collecting a larger set of DNA samples from people with MS to find other variants that could contribute to disability from the condition.

You can read more about this interesting research on the UCSF website

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