Huntington’s disease is a hereditary, degenerative brain disease, often called Woody Guthrie’s disease, for its most well-known victim. The disease usually becomes apparent around 40 years of age, and ultimately results in destruction of the primary thinking and planning part of the brain, called the cerebral cortex, and also of a major motor control region of the brain, called the basal ganglia. A new $617,388 grant from the Cure for Huntington’s Disease Initiative Foundation will allow Anton Reiner, PhD, of the University of Tennessee Health Science Center (UTHSC), to study the disease.
A professor in the Department of Anatomy and Neurobiology in the College of Medicine at UTHSC, Dr. Reiner will use the grant titled, “Progression of Basal Ganglia Pathology in Q175 Huntington’s Disease Mice and Human Huntington’s Disease,” to gain more insight into and explore treatment options for the disease. The funds will be distributed over three years.
Huntington’s disease (HD) causes profound emotional, cognitive, behavioral and motor disability, typically leading to death about 20 years after disease onset. In America, there are about 30,000 HD patients and about 150,000 people at risk of developing the disease. Although the gene defect is known in HD, how this defect causes progressive brain degeneration is not known, and no effective treatments are currently available.
It is hoped that the research will yield a deeper understanding of the brain regions and brain neuron types that degenerate in Huntington’s disease in humans. These studies will help explain the basis of particular symptoms and help guide treatment choices at different stages of the disease.
The award also supports studies to determine how well the brain pathology in the Q175 mouse model of Huntington’s disease matches that in the human disease itself. Q175 mice have been genetically engineered to have the same mutant gene that causes Huntington’s disease in humans, and they are being considered by the Cure for Huntington’s Disease Initiative Foundation as the animal model of choice for initial screening of possible therapies. If successful, the funded studies will help determine if this model could serve as an effective surrogate for humans in early testing of therapeutic options.
“We are pleased by the recognition of our prior work on HD that this award reflects, and we are pleased by the opportunity to continue to make contributions to the understanding of this disease and the development of treatments for it,” said Dr. Reiner.
The CHDI Foundation is a privately funded, not-for-profit biomedical research organization devoted to a single disease – Huntington’s disease. Its mission is to develop drugs that will slow the progression of Huntington’s disease and provide meaningful clinical benefit to patients as quickly as possible. For more information, visit www.chdifoundation.org.