Cure SMA Awards $140,000 Grant to Mustafa Sahin, MD, PhD, at Boston Children’s Hospital

By Cure SMA | Published On February 11, 2015

Cure SMA has awarded a $140,000 research grant to Mustafa Sahin, MD, PhD, at Boston Children’s Hospital for his project, “mTOR and Protein Synthesis in SMA.”

Individuals with spinal muscular atrophy don’t produce survival motor neuron (SMN) protein at high enough levels. We know that motor neuron cells stop working correctly and die when there is not enough SMN protein, but we need a greater understanding of what’s going wrong in SMA. What is the exact timing when defects occur, and what other cell types are affected by low SMN levels?

Dr. Sahin’s project will look specifically at a cellular pathway, called mTOR, that does not function properly when SMN levels are lowered.

Meet Mustafa Sahin

Who are you?

I am an Associate Professor of Neurology at Harvard Medical School, with a BS degree from Brown University, and an MD and a PhD from Yale University School of Medicine. I did a residency in both pediatrics and child neurology, along with postdoctoral research training in Developmental Neurobiology at Boston Children’s Hospital. I established the Multidisciplinary Tuberous Sclerosis Program at Boston Children’s Hospital, and I now direct that program. I’m also the Director of the Translational Neuroscience Center at the same hospital.

How did you first become involved with SMA research?

Along with my research in tuberous sclerosis complex (TSC), I’m also involved in SMA research. Both of these conditions have a genetic cause that is generally well understood, but both have cell biology that we don’t understand very well. I want to understand the cellular mechanisms of axon guidance, and its relationship to neurological dysfunction.

What is your current role in SMA research?

Right now, I’m investigating a particular cellular pathway, called mTOR. This pathway goes awry when SMN protein is lowered. This work could identify genes that compensate for the loss of SMN protein.

What do you hope to learn from this research project?

The mTOR pathway regulates protein synthesis in neurons, but is suppressed in SMA. The current study aims to understand this defect better in order to find and develop new therapeutic routes for the treatment of SMA.

How will this project work?

The lab will apply its expertise in studying neuronal protein synthesis and its regulation to determining how it is altered in SMA. A combination of cell culture and mouse experiments will be used.

What is the significance of your study?

SMA treatment may be most successful by combining treatment types: for example, treatments that increase protein synthesis may be combined with those that increase SMN expression.

Basic Research Funding

This grant to Dr. Sahin is part of $640,000 in basic research funding that we'll be announcing over the next few weeks. We'll profile each of the researchers who've received a grant, and share how their work can benefit those affected by SMA.

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.

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