The neuron in the center (yellow) contains an abnormal intracellular accumulation of huntingtin called an inclusion body (orange). Credit: NINDS

Huntington's disease is an incurable genetic disease that is trademarked by a steady decline in motor functions, and the degradation and death of cells in the brain. While the real cause of the disease has escaped scientists for a while now, new findings reveal that the build-up of mutant protein called huntingtin is the culprit.

The behavior of the mutant protein, huntingtin that leads to the development of the Huntington's disease has been identified by an international group led by Melbourne University, Australia, as reported by the Journal of Biological Chemistry.

The recent findings have found that the build-up of damaging proteins significantly triggers steady damage, as opposed to slowly building up to toxic level.

Dr Danny Hatters, team leader of the study said, Steps prior to the clustering of the mutated proteins were thought to damage cells, but these steps were not clearly detectable under a microscope.

Understanding this process, and finding the right target to block the ultimate death of the brain cells has been extremely difficult to determine.

The scientists have observed how the damaging proteins, huntingtin form into large clumps that are responsible in killing brain cells and causing progressed Huntington's disease, through the use of modern technology called analytical ultracentrifugation.

Based on the technology and the methods developed by the scientists, they were able to observe the process in greater detail.

From their findings, the mutated huntingtin proteins were shown to have formed into three different sized clusters in the damaged cells - a new discovery, that will provide an insight into the creation of targeted treatments that blocks key steps that cause those clusters to form and to stop the progression of the disease.