Cure SMA has awarded a $30,000 research grant to Remy Bordonne, PhD, at CNRS-Centre National de Recherche Scientifique, for his project, “Identification of the protective mechanism of a SMN modifier gene using S. pombe as a model organism”.

In SMA, actin, which is a protein that helps muscles to contract, doesn’t work properly. The goal of this project is to discover genes that rescue defects in actin functioning, in cells with low SMN protein levels. These type of genes are often call SMN-modifier genes.

To investigate this, Dr. Bordonne and his team will use the yeast, S. pombe, as a model organism to analyze the protective effect of an SMN-modifier gene on the formation and function of actin networks. The results from this study should provide insights into important pathways and targets that are able to compensate for actin defects induced by low levels of SMN.

Knowledge of these pathways and targets could potentially lead to the development of new strategies aimed at finding therapies for SMA patients. For example, therapies targeting actin dynamics in muscle could foreseeably be used in combination with SMN-enhancing approaches, such as Spinraza, to achieve greater therapeutic benefit.

Meet Dr. Bordonne

Who are you?

After obtaining a PhD from the University of Strasbourg in Biochemistry and Molecular Biology, I did my postdoctoral training in Genetics at the University of California, San Francisco. I have interests in the function and maturation of RNAs and work at the Institute of Molecular Genetics in Montpellier where I am the Research Director at the French National Center for Scientific Research (CNRS).

How did you first become involved with SMA research?

We initially characterized a protein important in splicing and found that it interacts with the SMN protein that plays an essential role in the assembly of splicing machinery. Splicing is the process by which the cell produces the final blueprint or instructions for making a particular protein, by removing unimportant chunks to produce what is called mRNA. Since that time, we have been interested in understanding the functional relationships between defects in splicing and spinal muscular atrophy.

What is your current role in SMA research?

Our goals are to identify defects associated with the loss of the SMN protein. To do so, we use number of disease models including human SMA induced pluripotent stem cells, mouse motor neuron-like cells, and yeast. We have also an interest in finding protective modifier genes using yeast genetic tools, because these genes could potentially reveal new therapeutic pathways to treat SMA.

What do you hope to learn from this research project?

We hope to learn how a particular SMN-modifier gene rescues defects in actin dynamics observed in SMA-like cells.

How will this project work?

We will use S. pombe, a yeast, to try to understand how a SMN-modifier gene protects the formation and function of actin networks, which are critical for muscle contraction.

What is the significance of your study?

Understanding how this protective SMN-modifier gene protects actin networks could potentially lead to the development of therapeutics which improve muscle contraction in SMA.

Basic Research Funding

This grant to Dr. Bordonne is part of $955,000 in new basic research funding that we’re currently announcing.

Basic research is the first step in our comprehensive research model. We fund basic research to investigate the biology and cause of SMA, in order to identify the most effective strategies for drug discovery. We also use this funding to develop tools that facilitate SMA research.

Past Announcements

$140,000 to Arthur Burghes, PhD

$140,000 to Jocelyn Côté, PhD