New findings offer hope for cure to patients with Huntington's disease. Laboratory tests on skin cells and post-mortem brain tissue of Huntington's disease patients determined that an overactive protein triggers a chain reaction that causes brain nerve cells to die.
According to a research team, led by University of Central Florida Ella Bossy-Wetzel, toning down the activity of that protein, known as DRP1, prevented the chain reaction and kept those cells alive.
People diagnosed with the disease usually die 15 to 20 years from the onset of symptoms, and there is an increased rate of suicide among those struggling with the disease.
"The next step will be to test the DRP1 function in animals and patients to see whether the protein also protects the brain. This could be done before the onset of disease in patients who have the mutant Huntington gene, but have no neurological symptoms. The hope is that we might be able to delay the onset of disease by improving the energy metabolism of the brain," said Bossy-Wetzel.
Until now, little has been known about how Huntington's works.
"Mitochondria require balanced cycles of division and fusion to maintain their ability to produce energy. The protein DRP1 is needed for mitochondrial division. We found that in Huntington's disease, DRP1 becomes overactive and causes too much mitochondrial division without balancing fusion," said Bossy-Wetzel.
That production error causes the brain's nerve cells to die. The UCF team toned down the activity of DRP1, which restored a normal balance of mitochondrial division and fusion and improved the energy metabolism and survival of neurons.
The research findings were published online in the journal Nature Medicine.