Washington: Researchers have claimed to have discovered out how the fatal inherited disorder Huntington's disease kills brain cells.
They believe they have learned how mutations in the gene that causes Huntington's disease kill brain cells, a finding that could open new opportunities for treating the fatal disorder.
Scientists first linked the gene to the inherited disease more than 20 years ago.
Huntington's disease affects five to seven people out of every 100,000. Symptoms, which typically begin in middle age, include involuntary jerking movements, disrupted coordination and cognitive problems such as dementia.
Lead author Hiroko Yano, PhD, of Washington University School of Medicine in St. Louis, found in mice and in mouse brain cell cultures that the disease impairs the transfer of proteins to energy-making factories inside brain cells.
The factories, known as mitochondria, need these proteins to maintain their function. When disruption of the supply line disables the mitochondria, brain cells die.
Yano, assistant professor of neurological surgery, neurology and genetics, said they showed the problem could be fixed by making cells overproduce the proteins that make this transfer possible.
She said that they don't know if this will work in humans, but it's exciting to have a solid new lead on how this condition kills brain cells.
For the new study, Yano and collaborators at the University of Pittsburgh worked with mice that were genetically modified to simulate the early stages of the disorder.
The findings have been published in the journal Nature Neuroscience.