Grey matter atrophy in multiple sclerosis (MS) could be caused by the combined effect of several genes, according to the authors of a study recently published in the Journal of Neurology.

These results provide potential neurobiological pathways that account for [grey matter volume] reduction and cognitive decline in MS patients,” the authors wrote.

Understanding the genetic cause of grey matter volume reduction could help identify new therapeutic targets for the disease.

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It is already known that there is an extensive reduction in grey matter volume in MS. However, the genes associated with this reduction, which likely causes cognitive impairments in patients, were not known.

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Here, a team of researchers from China led by Chunshui Yu, MD, identified 623 genes that are significantly associated with grey matter volume reduction in MS, using a transcription-neuroimaging association approach. The genes they identified were mainly expressed in neurons and were associated with ion channels, synaptic transmission, and axon and neuron projection. 

Importantly, mainly genes with downregulated expression were associated with grey matter volume reduction rather than those with upregulated expression.

When the researchers analyzed the spatial distribution of the expression patterns of these genes, they found that there were significant correlations with brain activation patterns of memory and language tasks.

According to the authors, more research is now needed to identify new genes in a large sample size, taking into account clinical subtypes of MS as well as information about any treatment that patients are receiving.

Traditionally, MS has been thought of as a disease associated with white matter in the brain. However, it is now known that grey matter reduction occurs even in the early stages of the disease and continues as the disease progresses, and it is related to the symptoms of the disease such as motor deficits and cognitive decline.


Sun J, Xie Y, Wang Q, et al. Genes associated with grey matter volume reduction in multiple sclerosis. J Neurol. Published online August 29, 2021. doi:10.1007/s00415-021-10777-2