Dr. Marife Arancillo from Baylor College of Medicine in Houston, Texas was awarded a Post-Doc Fellowship by the National Ataxia Foundation (NAF) with her project “Neural Mechanisms of Cerebellar Function in Ataxia” focusing on the development of a genetic toolkit to help study ataxia and the role played by the brain’s cerebellum.
Ataxia is an incapacitating brain disorder in which the patient lacks muscle control in voluntary movements. Affected individuals become uncoordinated and basic daily activities that require fine motor control such as walking, swallowing, writing and speaking clearly can be compromised. Ataxia is usually the result of a dysfunction in parts of the nervous system, with abnormalities in the cerebellum (part of the brain that controls coordination and mobility) being the most common cause of ataxia. Each and every movement is critically dependent on the cerebellum activity.
Ataxia is known to arise when the cerebellum has either intensive or extremely low activity, two opposite states that lead to the same disease. The neural signs that trigger ataxia are unknown.
“My goal in this proposal is to define the defective signals that are initiated in the cerebellum of ataxic mice and to determine how these signals travel through the circuit to obstruct movement.” explained Dr. Arnacillo. For this purpose, she developed a genetic toolkit that allows the selective blockade of certain neural signals in the mouse cerebellum. In this way, its nervous system can be overloaded with signals or given just a few, two conditions known to cause ataxia.
The researcher believes that the main advantage of this genetic toolkit lies within its capacity to interfere with cerebellar signal communication, allowing the use of brain recording methods to monitor how the remaining signals are able to hamper ongoing movement while mice are completing tasks in real-time. This is a significant technical advance because in typical ataxia models, cell death invalidates the possibility of analyzing with precision how the brain works in ataxia.
“The experiments that I am proposing will deepen our knowledge of brain function in ataxia and provide new opportunities for developing effective therapies to treat the disease,” concluded Dr. Arancillo.