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UT study suggests earlier diagnosis, potential therapy for Huntington's disease

University of Tennessee at Knoxville

A new study published in the Proceedings of the National Academy of Sciences (PNAS) suggests that Huntington's disease may take effect much earlier in life than was previously believed, and that a new drug may be key in controlling the disease.

"This could be a good start to developing new promising treatments for Huntington's disease, treatments that could be administered even before signs of the illness appear," said Alexander Osmand, researcher in the Department of Biochemistry and Cellular and Molecular Biology at the University of Tennessee, Knoxville, and coauthor of the study.

The disease, which causes the progressive deterioration of both mental and physical abilities, is the result of a genetic mutation of the huntingtin gene. All humans possess this gene, and studies suggest that is necessary to healthy development. Its mutated form, however, causes the rapid decay of specific neurons, eventually resulting in death.

Usually, the effects of Huntington's disease are not apparent until an adult reaches their 30s or 40s. By studying mice, however, researchers have discovered that an array of effects may be seen much earlier.

Although these early symptoms are less clearly defined than the later, more debilitating effects, they could serve as an indicator to health care providers that further screening may be needed.

Researchers subjected several litters of mice carrying the human huntingtin gene to four different dose regiments of Panobinostat, a drug currently used in the treatment of various cancers. Researchers believe that this drug can regulate gene expression, which could be an important step towards treating those with Huntington's disease.

The researchers also studied the mice's behavior by monitoring their vocalization, startle response, and risk-taking behavior. These behavioral abnormalities showed that symptoms of the disease were present prior to the full mutation commonly associated with Huntington's.

Although treatment with Panobinostat cannot reverse gene mutation completely, clinical trials have shown that it may prevent gene changes associated with the expression of the disease. Until now doctors have been able to treat only some of the symptoms associated with Huntington's disease, such as depression, mood swings, and involuntary movement. While these treatments may make Huntington's easier to bear, they do nothing to combat the disease itself.

Approximately 30,000 Americans suffer from the disease, according to the Huntington's Disease Society of America, and one 2013 study found that treatment can cost anywhere from $4,947 to $37,495 annually depending on the severity of the condition.


The paper "Early postnatal behavioral, cellular, and molecular changes in models of Huntington disease are reversible by HDAC inhibition" was written in collaboration with researchers from the following institutions: McKnight Brain Institute, Department of Neurosurgery, University of Florida; European Cancer Stem Cell Research Institute, Cardiff University School of Biosciences, United Kingdom; Department of Experimental Therapy, Friedrich-Alexander-University, Erlangen, Germany, Neuroscience and Aging Laboratory, Jean Mayer USDA Human Nutrition Research Center on Aging, Tufts University, USA; Clinic of Psychosomatic and Psychotherapy, Medical School Hannover, Germany; Institute of Medical Genetics and Applied Genomics, Center for Rare Diseases, University of Tübingen, Germany; Institute of Neuroscience and Medicine, Forschungszentrum Jülich, Germany; Institute of Molecular Regenerative Medicine, Paracelsus Medical University Salzburg, Austria; Institute of Experimental Neuroregeneration, Spinal Cord Injury and Tissue Regeneration Center Salzburg, Paracelsus Medical University, Austria; Section of Translational Neuropharmacology, Department of Physiology and Pharmacology, Karolinska Institute, Sweden; Institute for Human Genetics, Charité-Universitätsmedizin, Berlin, Germany; Neuroscience Discovery, Novartis Pharma AG, Basel, Switzerland; Bio-Imaging Laboratory, University of Antwerp, Belgium; Translational Neuroendocrine Research Unit, Department of Experimental Medical Science, Lund University, Sweden; Stem Cell Laboratory for CNS Disease Modeling, Department of Experimental Medical Science, Lund University, Sweden; Massachusetts Institute of Technology, Cambridge, USA.


Will Wells

Andrea Schneibel

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