Cure SMA, which supports research to find a treatment and an eventual cure for spinal muscular atrophy (SMA), has awarded a $140,000 grant to the research project “mTOR and Protein Synthesis in SMA” currently being conducted by Mustafa Sahin, MD, PhD, at Boston Children’s Hospital. The grant is part of a major $640,000 funding initiative that will be awarded over the next few weeks to support basic research for the disease.
The research being conducted by Sahin focuses on mTOR, a cellular pathway that functions incorrectly when the levels of survival motor neuron (SMN) protein are low. SMA patients are unable to produce the SMN protein at sufficient levels, causing motor neuron cells to stop functioning and eventually die. Dr. Sahin believes he will be able to, not only increase knowledge about the mechanisms of the disease, but also provide insights into new courses of treatment.
“This work could identify genes that compensate for the loss of SMN protein,” explained Sahin, who is an associate professor of neurology at Harvard Medical School, director of the Multidisciplinary Tuberous Sclerosis Program, and of the Translational Neuroscience Center, both at the Boston Children’s Hospital, in an interview on the Cure SMA website.
“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,” he continued. “The lab will apply its expertise in studying neuronal protein synthesis and its regulation to determining how it is altered in SMA.”
Dr. Sahin will use a combined experimental method that will include cell cultures and experiments on mice. The scientist believes that therapeutic options for the treatment of SMA are more effective when combined, such as the combination of treatments including drugs to improve protein synthesis as well as those that improve SMN expression. Dr. Sahin was chosen by Cure SMA in the hope that his research will result in new treatment pathways for SMA patients.
The organization is awarding $640,000 to fund basic research focused on studying the disease’s biological causes, as this is the foundation of Cure SMA’s comprehensive research model. Dr. Sahin is one of the first investigators to be awarded funding due to his expertise and experience in the field. With a BS degree from Brown University, and an MD and a PhD from Yale University School of Medicine, Sahin became interested in the genetic causes and cell biology of SMA and tuberous sclerosis complex during his studies.
Dr. Sahin completed his residency in pediatrics and child neurology, and continued his training in postdoctoral research in Developmental Neurobiology at Boston Children’s Hospital. In addition, he also created the Multidisciplinary Tuberous Sclerosis Program at the facility, and is dedicated to increasing knowledge of the cellular mechanisms of axon guidance and its correlation with neurological dysfunction.