Brussels, 09 Jul 2004
A team of scientists from the French CNRS (National Centre for Scientific Research) and INSERM (National Institute for Health and Medical Research) have elucidated the role of huntingtin, the protein whose mutation triggers Huntington's disease.
According to the research, huntingtin acts as a 'booster rocket', hastening the transport of a neuron's survival factor. When huntingtin mutates, the 'booster rocket' stops functioning properly and the transport slows, which reduces protection, causing the neurons to die by apoptosis.
It is hoped this novel discovery, published on 9 July in the journal Cell, could lead to new therapeutic techniques for blocking the accelerated death of neurons.
Huntington's disease is a rare neurological disorder which affects 1 in 10 000 people and usually begins between the age of 35 and 50. Like Alzheimer's or Parkinson's, the disease is typified by the abnormal death of certain neurons. The most prominent indicators of Huntington's are involuntary and jerky movements of the limbs, head and neck. Other symptoms include mental disorders such as anxiety, irritability, depression and intellectual decline leading to dementia. Death typically occurs 15 to 20 years after the onset of the disease, usually due to complications (pneumonia and other infections).
Until now, the function of huntingtin, the gene responsible for the disease, had been poorly understood. The team of scientists discovered that, in its normal state, huntingtin protects neurons against cell death. However, once it is mutated, the reverse occurs, resulting in the rapid death of neurons in the striatum, the brain region where Huntington's disease arises.
'Although still at the research stage, this work opens up new investigational pathways in the treatment of Huntington's disease. [...] In the longer term, other diseases, like cancer, in which apoptosis plays a fundamental role, could also benefit from those discoveries,' said the Institut Marie Curie in a statement.
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