According to a story from the National Center for Advancing Translational Sciences, a group of scientists from the National Institutes of Health (NIH) has unearthed a new mechanism that could help fight Huntington’s disease. This could lead to significant advances in fighting this rare and lethal degenerative disease.
Huntington’s disease, which is also called Huntington’s chorea, is a genetic, inherited neurodegenerative disorder that results in the death of brain cells. The disease typically does not being to display symptoms until the patient has become an adult. These include changes in personality and behavior, loss of coordination, erratic, involuntary jerking movements called chorea, unusual posture, and problems with speaking and swallowing. Ultimately, symptoms progress to dementia and eventually death. Most people survive 15 to 20 years after getting diagnosed. While there are some treatments available that can reduce the severity of symptoms such as chorea, there is currently no way to halt progression. The most common cause of death for people with Huntington’s disease is pneumonia. To learn more about Huntington’s disease, click here.
In the study, the researchers found that an enzyme called PIP4Ky played a crucial role in Huntington’s. By blocking the activation of this enzyme, the scientists found that the symptoms and disease related effects became significantly less severe. In Huntington’s disease, the ability of the brain cells to recycle waste is inhibited. In a healthy individual, this process serves to rid the cells of potentially harmful toxic substances that build up over time. In a patient, these substances remain and eventually cause the death of the cell. PIP4Ky is responsible for interrupting the normal recycling process, which is why inhibiting this enzyme reduced symptoms.
PIP4Ky has been implicated in other degenerative disorders like Alzheimer’s and Parkinson’s disease. These conditions are similar in that toxins begin to build up in the cells. A class of PIP4Ky inhibitor drugs could be a potential new treatment for all of these conditions, but scientists say that more research must be done before an effective medication can be developed.
The researchers plan to experiment with different methods for inhibiting PIP4Ky activity in order to find the most efficient method. Hopefully, this new discovery will lead to real improvements for Huntington’s disease patients.
