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Families of Spinal Muscular Atrophy Awards New Research Funding of $140,000 to Dr. Jocelyn Cote at the University of Ottawa.

December 19, 2012.

Description of FSMA Funded Project:  Arginine methylation as a regulator of SMN activities in motor neurons.
Objective: The researchers will study and obtain more information about the role of a novel protein, called PRMT8, which is present at the surface of the cells that are most affected in SMA, the motor neurons in the lower spinal cord.
Research Strategy: The project will test the possibility that PRMT8 may be able to make the SMN protein, which is still present in small amounts in SMA patient cells, more active. Preliminary results suggest that PRMT8 can regulate the binding of specific proteins to a region of the SMN protein called the Tudor domain in motor neurons. The researchers hypothesize that PRMT8 regulates SMN function in motor neurons, and it may be possible to stimulate SMN function in SMA cells through modulation of PRMT8 levels and/or activity.

Earlier this year, FSMA's Advisory Boards met to evaluate new research funding for 37 basic research grant applications and 7 drug discovery projects for SMA. The organization is planning to award $1.4 Million in new research funding over the next few months. This new round of research funding will be allocated into three areas: 1) Basic Research to understand the disease and provide ideas for drug making, 2) Drug Discovery to develop new SMA therapies, and 3) Clinical Research to help test new drugs effectively and to improve care for patients.
Click here to see more details on the process.

Our research progress provides us all with hope that one day we will live in a world without SMA. Your gift will make that hope a reality.  Click here or on the image below to donate and support Families of SMA research and services.

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Researcher Profile:


Who are you?
I am a biochemist and molecular biologist by training with specific expertise in the field of post-transcriptional regulation of gene expression.  Transcription involves the synthesis of so-called messenger RNA from a DNA template resulting in the transfer of genetic information from the DNA molecule to the messenger RNA.  Post-transcriptional mechanisms include the mechanism that allows the messenger RNA to be differentially "edited or spliced"- depending on cell type or environmental conditions- through a process called alternative splicing.  Post-transcriptional mechanisms also include the regulation of the transport, localization, and effective life span of the RNA messenger, as well as the specific modifications to the proteins that participates in these processes.  Click here for the lab webpage.
How did you first become involved in SMA Research?

 I initially started working on SMA because I identified SMN, or more specifically a part of the SMN protein called the Tudor domain, as a domain capable of ‘sensing’ a special protein modification termed ‘arginine methylation’.  Following this discovery, we reasoned that these ‘methylated’ proteins might represent a major subset of proteins that would stop functioning normally in the absence of SMN in SMA patients, and that studying these proteins might help us gain a better understanding of what SMN does in spinal cord motor neurons and how loss of its activity leads to SMA.  After I first attended the Annual FSMA Research Conference back in 2002 and met with SMA kids and their families, it became clear to me that I was going to do my best to contribute my expertise towards increasing our fundamental understanding of this disease in the hope that it would help one day in the elaboration of novel therapeutic strategies.
What is your current role in SMA Research?
 My lab uses biochemical and cellular biology approaches in order to gain a better understanding of the precise function that SMN plays in spinal cord motor neuron, and how loss of that function leads to the disease.  For example, we are trying to identify what are the other proteins and RNA molecules that SMN interacts with and controls in motor neurons, with the logic that this should give us some insights into what SMN is actually doing in this cell type in particular.  Then, we assess if these SMN interacting partners could represent valid targets that might be easier to manipulate than SMN itself to improve the SMA phenotype.

Click here for our funding facts page for details on FSMA research awards.

This grant is being funded by Families of SMA Canada.

This grant to Dr. Cote at the University of Ottawa will help answer the key basic research question of what function does SMN protein perform in motor neurons?

The basic research that Families of SMA has funded, through 145 research grants to 75 institutions around the world, has delivered major discoveries:
-We know the cause of SMA. Which means we can develop treatments that correct the underlying cause of the disease rather than just reduce symptoms.
-We identified a back-up gene for SMA. Which means we have a straightforward drug target already in the body: a built-in switch for new therapies to work on.
Using this knowledge, we now have 3 clinical trials testing new SMA therapies, and an additional 10 programs in earlier stages of the drug development pipeline.


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