Two new studies increase our understanding of MS

New studies may be good news for those of us living with multiple sclerosis as they increase understanding of it.

One pinpoints a mutation responsible for neurological dysfunction. Meanwhile, the second says high levels of a protein may contribute to MS progression.


Professor Ian Duncan.

Ian Duncan is professor of neurology in the department of medical sciences at the University of Wisconsin-Madison. He has pinpointed the cause of a serious neurological disease. The disease is very similar to multiple sclerosis, and found in a colony of rats. The study, “A mutation in the Tubb4a gene leads to microtubule accumulation with hypomyelination and demyelination (pages 690–702)”, is published in this month’s Annals of Neurology.

The human disease, called H-ABC, can affect parts of the brain. Both conditions arise from mutations in the same gene. And both abnormalities affect myelin, as seen in MS.

Professor Duncan examined the nervous system tissue from both conditions and revealed an overgrowth of tiny tubes known as mircotubulas in oligodendrocytes,. These are the cells that make myelin and deposit it on nerve fibres.

Myelin defects are also at the root of the leukodystrophies — genetic disorders that include H-ABC.

Knowing how oligodendrocytes form and maintain myelin, and how those essential processes go awry, “could open a new window of understanding on the more widespread myelin diseases,” Duncan added.

Protein may encourage MS progression

The second study found that high levels of a protein called Rab32 may contribute to the progression of MS. And this could lead to neuronal loss.

The study, “Rab32 connects ER stress to mitochondrial defects in multiple sclerosis,” was published in the Journal of Neuroinflammation.

The endoplasmic reticulum (ER) plays a part in producing new proteins, and stores calcium. ER stress is a hallmark of MS and several other neurodegenerative diseases.

Now, researchers at the University of Alberta, Canada, suggest that the ER may play a role in triggering mitochondria impairment, leading to MS.

Professor Thomas Simmen.

Thomas Simmen, associate professor in the department of cell biology, is senior author. He said: “Scientists have been pointing to the mitochondria as a possible link to MS. But they have not been able to decipher how it malfunctions. Ours is the first study that combines clinical and lab experiments to explain how mitochondria become defective in MS patients.”

Using brain tissue samples from MS patients and healthy individuals, the team quantified levels of Rab32 and monitored neuronal death.

Results indicate higher Rab32 levels have links to an increase in ER stress proteins and inflammation in the MS brain. However, virtually no Rab32 was present in brain tissue from healthy individuals.

ER stress has strong links to an increase of Rab32 and MS progression that can lead to mitochondrial impairment and neuronal death. What’s more, these findings may prove useful in designing novel strategies to prevent neuronal loss in MS.

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Affiliate disclaimer: This affiliate disclosure details the affiliate relationships of MS, Health & Disability at with other companies and products. Read more.

* * * * * is the personal website of Ian Franks, a Features Writer with Medical News Today. He has enjoyed a successful career as a journalist, from reporter to editor, in the print media. During that career he gained a Journalist of the Year award in his native UK. Diagnosed with MS in 2002, he continued to work until mobility problems made him retire early in late 2006. He now lives in the south of Spain. Besides MS, Ian is also able to write about both epilepsy and cardiovascular matters from a patient’s perspective. Besides that, he is a keen advocate on mobility and accessibility issues.


2 thoughts on “Two new studies increase our understanding of MS

    • Hi Darek, if you’d like to know more about the two pieces of research in today’s article, please click on the two links in the story. If there is something else you’d like to ask about – ask away.


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