From Bones to Brains to Breaking New Ground in Rett Research

When most of us think about bone marrow transplants, we think about Leukaemia. But did you know that the very latest research driven and funded by RSRT involves bone marrow transplants in the mouse model of Rett Syndrome?

So how can bone marrow and immunology relate to a complex neurological condition like Rett Syndrome anyway?

Jonathan Kipnis-researcher

Meet Jonathan Kipnis Ph.D., a Neuroimmunologist who has worked for a number of years on connections between the immune system and brain function. Dr Kipnis did his post doctoral training in the very lab where it was discovered that injecting T-cells (a type of white blood cell necessary for immunity) into patients after Central Nervous System injury improves the outcome for patients and prevents neuronal death.

In recent years, Dr Kipnis’ focus has been on T-cell response in naturally occurring diseases as well. His lab started working with mouse models of Severe Combined Immunodeficiency Disease (so-called ‘bubble children’) and found that they were impaired, not only in their immunology but also in tasks involved in learning, memory and brain plasticity. When these mice were injected with T-cells from wild-type (healthy) mice, the cognitive function of the mice was repaired within two weeks. Researchers then removed the T-cells from adult wild-type (healthy) mice and saw that their brain function also becomes impaired and so a clear relationship between immune response and brain function was established.

This is where Rett Syndrome comes into the picture. T-cells have been shown to regulate a number of processes in the brain which are impaired in Rett Syndrome. This, coupled with Adrian Bird’s demonstration of the reversibility of Rett in mice, made Rett Syndrome a good model system for Dr Kipnis’ lab to further explore his hypothesis and better understand the precise function of T-cells in the brain. His lab went on to transplant bone marrow from a mouse model of Rett Syndrome to wild-type mice and after some time, the mice developed Rett symptoms accordingly.

One of the exciting things about bone marrow is microglia. Microglia, are very active participants in the brain but they are not made in the brain. They come from hematopoietic stem cells in blood or bone marrow. When mice are given new bone marrow, after a time, the microglia in the brain will be replaced by the new microglia. One of the many challenges in the development of treatments and cures for Rett Syndrome is the question of how to make the necessary changes to MeCP2 (protein) levels within the brain. Bone marrow transplants hypothetically circumvent this issue, providing a novel way to cross the blood-brain barrier.

When Monica Coenraads, Executive Director of RSRT and Trustee and Co-founder of RSRT UK, came across this work she contacted Dr Kipnis immediately. The obvious and urgent question is whether transplanting bone marrow from healthy mice into the mouse model of Rett Syndrome will improve or indeed, reverse symptoms and Jonathan Kipnis’ lab is in prime position to explore this work further. Now intensively funded and supported by RSRT, Jonathan Kipnis continues this work with a new focus; delivering treatment for girls and women living with Rett Syndrome today.

This project is an example of the kind of innovative, cutting-edge research driven and funded by RSRT. When you donate or fundraise for RSRT UK, you impact our ability to aggressively fund projects like these, intensively pursuing treatment for our children.

To read an in-depth interview with Dr Jonathan Kipnis, please go to the Rett Syndrome Research Trust blog

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About Rett Syndrome Research Trust UK

Rett Syndrome Research Trust UK is the only UK charity exclusively focused on the development of treatments and cures for Rett Syndrome and related MECP2 disorders. Registered charity number: 1136809
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2 Responses to From Bones to Brains to Breaking New Ground in Rett Research

  1. So interesting and exciting for all of us.

  2. MISTY FROGGE says:

    PLEASE, PLEASE, PLEASE LET THIS WORK & BE TESTED SOON ON THE RETT SYNDROME MICE! IF THIS WORKS & IS CARRIED OUT SOON, MY DAUGHTER MAY BENEFIT FROM THIS!!!! MY LIFE LONG DREAM FOR MY DAUGHTER WITH RETT SYNDROME IS TO BE CURED!!!!
    THANKS SO MUCH FOR THINKING ABOUT THE GIRLS WITH RETT SYNDROME!
    MISTY

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