Originally published on March 4, 2014.

Cure SMA is leading the way to a world without SMA by advancing a comprehensive research program, of which basic research is a key component.  Cure SMA has awarded 79 basic grants for a total of $9,507,612 in the past 10 years. Dr. Burnett of the Uniformed Services University of the Health Sciences will receive $95,000 for two years to explore the role of SMN in muscle development.

To Characterize the Role of SMN Protein in Myoblast Fusion

Objective: Our preliminary results indicate that SMN-deficient muscle cells have reduced capacity to fuse into myotubes to form muscles. Our goal is to characterize the role of SMN in myotube formation using SMN-deficient muscle precursor cells.
Research Strategy: Using muscle cell lines we will compare the gene expression changes, structural dynamics, and membrane fusion events of wild type and SMN-deficient cells during myotube formation.
Significance: While motor neuron degeneration is critical to the pathogenesis of SMA, it is becoming clear that SMN protein deficiency in peripheral tissues might also contribute to the disease. In particular, there is evidence from human tissue and SMA model organisms that SMN deficiency may lead to muscle defects. We hypothesize that SMN is involved in myotube formation. Greater understanding of SMN function will allow us to determine how and why deficiency of SMN leads to SMA pathology in muscles and nerves.

Meet Dr. Burnett:

Who are you?
I am an Assistant Professor at the Uniformed Services University. I received my PhD in Pharmacology from the University of Pennsylvania and did my postdoc training with Dr. Kenneth Fischbeck at the NIH. I have a broad background in genetics, protein biochemistry and pharmacology.

How did you first become involved with SMA research?
In 2006 after joining the Fischbeck lab at the NIH as a postdoc I wrote for and received a fellowship to study the role of protein degradation in SMA. Dr. Fischbeck’s laboratory and others had previously shown that compounds which activate SMN gene expression could increase SMN levels and improve survival in SMA mice. I was interested in studying the mechanisms that modulate SMN protein stability and to investigate if increasing SMN levels would ameliorate the disease phenotype in model mice.

What is your current role in SMA research?
One of the primary research goals of my lab is to investigate the normal function of disease-associated proteins and to validate potential small molecule therapeutics using cell and animal models.

2014 Cure SMA Research Mission and Funding

The overall mission at Cure SMA is a world without SMA. Making this happen requires scientific research investments. Thus, our main research goal at Cure SMA is to accelerate the discovery of an effective treatment and cure for SMA by funding and advancing a comprehensive research program, including:

•    Basic Research to reveal the best ways of making SMA drugs,
•    Drug Discovery to make new drugs,
•    Developing Clinical Trial infrastructure to help test new drugs, and
•    Clinical Care Research to improve the quality of life in SMA patients.
In addition to the basic research funding announced in this edition of Compass, Cure SMA will invest in more research in 2014 to advance our vision of a world without SMA. Please be on the lookout for two upcoming Requests for Proposals (RFPs) for additional research funding from Cure SMA in 2014 in the following research areas: 1) Drug Discovery – Overseen by the Translational Advisory Council, and 2) Clinical Care – Overseen by the Medical Advisory Council.