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UCLA scientists develop model for further study of Huntington’s disease

Scientists know the cause of Huntington's disease -- an inherited gene mutation -- but there are currently no therapies or cures that prevent the onset or slow the progression of the disorder. (Thinkstock)
Scientists know the cause of Huntington’s disease — an inherited gene mutation — but there are currently no therapies or cures that prevent the onset or slow the progression of the disorder. (Thinkstock)

Scientists at UCLA have developed a new mouse model for the study of the specific mechanisms that trigger Huntington’s disease and its progression.

Scientists know the cause of the disease — an inherited gene mutation — but there are currently no therapies or cures that prevent the onset or slow the progression of the disorder.

UCLA researchers determined that removing a specific molecular switch from a cell can trigger many symptoms in mice that are similar to those found in human Huntington’s disease patients, according to findings that appears in the current online edition of the journal Neuron.

Huntington’s disease affects one in every 10,000 Americans, and there are about 35,000 patients in North America, with another 250,000 at risk.

People who possess the HD gene usually do not show symptoms until middle age, which means, as an inherited disease, affected individuals unknowingly pass on the mutated gene to half of their children on average.

When symptoms do begin to manifest, they consist of abnormal movements including chorea — dance-like movement, dystonia — a form of involuntary sustained muscle contractions, and abnormal gait with frequent falls.

Additionally, patients suffer from debilitating cognitive and psychiatric deficits that impair their ability to work and to carry out their daily lives, and they die of disease complications about 20 years after the onset of symptoms.

 

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