Australian researchers appear to have unveiled the mechanism of Huntington disease paving way for effective cures to this hitherto unaddressed medical problem.
Huntington’s, which is a neurodenegerative disease affecting movement and thinking of the victim, is known to be caused by a defective gene.
This fatal genetic disorder destroys brain cells and deprive the sufferer his ability to move, talk, swallow or concentrate.
Even though the mutant protein, which has been carried over through the families, is identified as the culprit, how exactly the gene works to bring about the disease condition largely remained unanswered.
But now researchers at the University of Melbourne have come out with more findings that will perhaps help disentangle the knotty problem.
“We’ve known for a long time exactly what gene causes the disease but it’s been a real mystery as to how this gene actually causes the cells to die,” said researcher Danny Hatters, who specialises in neurodegenerative diseases.
“We do know that the gene causes these mutations that cause the cranium to form very large clusters that you can see under a microscope.But what’s really been difficult is trying to determine how the clusters form before they form these big clumps. This is critical because we think these smaller clusters are what is actually toxic to the cells,” explained Dr Hatters.
Dr Hatters and his team has now developed a technique to measure the size of these clusters. Determining the size of the clusters is very important in Huntington’s. Because only big clusters can be detected under microsopes currently and they actually form after the damage has been done to the cells.
The new technique developed by the Melbourne researchers to say how big the clusters really are is rather simple.
It involves taking a cell mixture and putting it into a special container that spins around a very, very high gravitational force. The sample will be directly exposed to a sophisticated laser set-up.
The size of the protein clusters are then determined by the different speed they can travel through the gravitational force.
Small clusters of the mutant proteins are the most important factor in the search for a treatment, according to Dr Hatters.
Huntington’s disease (HD) results from genetically programmed degeneration of brain cells, called neurons, in certain areas of the brain.
This degeneration causes uncontrolled movements, loss of intellectual faculties, and emotional disturbance.
Huntington’s disease is a familial disease, passed from parent to child through a mutation in the normal gene. Each child of an HD parent has a 50-50 chance of inheriting the HD gene.
If a child does not inherit the HD gene, he or she will not develop the disease and cannot pass it to subsequent generations. A person who inherits the HD gene will sooner or later develop the disease. Whether one child inherits the gene has no bearing on whether others will or will not inherit the gene.
Some early symptoms of Huntington’s disease are mood swings, depression, irritability or trouble driving, learning new things, remembering a fact, or making a decision.
As the disease progresses, concentration on intellectual tasks becomes increasingly difficult and the patient may have difficulty feeding himself or herself and swallowing.
The rate of disease progression and the age of onset vary from person to person.
A genetic test, coupled with a complete medical history and neurological and laboratory tests, helps physicians diagnose Huntington’s disease.
Presymptomic testing is available for individuals who are at risk for carrying the HD gene. In 1 to 3 percent of individuals with Huntington’s disease, no family history of Huntington’s disease can be found.
At this time, there is no way to stop or reverse the course of Huntington’s disease. Now that the HD gene has been located, investigators are continuing to study the HD gene with an eye toward understanding how it causes disease in the human body.