SEP 04, 2018 08:56 PM PDT

Treating Symptoms of Huntington Disease

WRITTEN BY: Nouran Amin

Credit: Indiana Public Media

According to a new study published in the Proceedings of the National Academy of Sciences (PNAS), a genetic disorder known as Huntington's disease may occur much earlier in life than previously believed, and a new drug may control 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, a researcher in the Department of Biochemistry and Cellular and Molecular Biology at the University of Tennessee, Knoxville, and co-author of the study.

Huntington’s disease leads to the progressive deterioration of both mental and physical abilities and is the result of a mutation in the huntingtin gene; a gene possessed by all humans and necessary for healthy development. When the huntingtin gene is mutated, it “causes the rapid decay of specific neurons, eventually resulting in death”. According to the Huntington's Disease Society of America, an estimated 30,000 Americans suffer from the disease and a 2013 study found that “treatment can cost anywhere from $4,947 to $37,495 annually depending on the severity of the condition”.

Almost always, the symptoms of Huntington's disease are not present until an adult reaches their 30s or 40s. However, researchers have discovered that an array of symptoms may be exhibited much earlier. Although these early symptoms are not clearly defined than the later, more debilitating symptoms, they could be useful to health care providers when further screening is needed.

The researchers exposed several litters of mice engineered to carry the human huntingtin gene to four different dose regimens of the drug, Panobinostat, which was used in the treatment of multiple cancers. The researchers believe that this particular drug is responsible for regulating gene expression, which is an important step towards treating individuals with Huntington's disease. Additionally, researchers examined mice behavior by studying their vocalization, startle response, and risk-taking behavior. Such behavioral abnormalities provided evidence that the effects of the disease were present prior to the “full mutation commonly associated with Huntington's”.

Even though treating patients with Panobinostat cannot reverse the gene mutation completely, multiple clinical trials have shown that the drug may inhibit gene changes implicated in the expression of the disease. Until now physicians were able to provide treatment to only a few of the symptoms associated with Huntington's disease including depression, mood swings, and involuntary movement. However, while these treatments make Huntington's disease a bit bearable, they do nothing to eradicate the disease itself.

Watch the video below to learn more about Huntington's disease:

 

Source: University of Tennessee at Knoxville, Proceedings of the National Academy of Sciences

About the Author
  • Nouran enjoys writing on various topics including science & medicine, global health, and conservation biology. She hopes through her writing she can make science more engaging and communicable to the general public.
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