Huntington’s disease is a genetic, progressive disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability. The disease is caused by mutated protein, called huntingtin, with symptoms appearing in adulthood and worsening over time. New research, reported in the journal Science Translational Medicine, suggests that lowering huntingtin levels in the brain can restore cognitive and psychiatric impairments in mice.
The location of the huntingtin gene on chromosome 4 and 3D structure of huntingtin. Image credit: Genetics Home Reference / NCBI / EBI.
There is no cure for Huntington’s disease, but researchers are working towards preventative treatment.
They hope people may one day be able to access ongoing treatment, much like those who suffer from asthma.
“The symptom that is most apparent in Huntington’s disease patients is the uncontrolled dance like movements, but the psychiatric symptoms and cognitive decline are particularly debilitating,” said senior author Professor Michael Hayden, senior scientist and founder of the Centre for Molecular Medicine and Therapeutics at the University of British Columbia.
“Most Huntington’s disease studies have focused on motor performance, so we wanted to assess mood, learning and memory that represent significant burdens,” added first author Dr. Amber Southwell, a researcher at the University of Central Florida.
The scientists delivered gene therapy treatment to mice in the form of pieces of DNA — called antisense oligonucleotides — that decreased production of the toxic huntingtin protein.
With this intervention, they found mice regained cognitive performance and became less anxious and depressed.
“Being able to restore cognitive function and improve anxiety in an ill mouse is very exciting,” Dr. Southwell said.
“This study reinforces the potential of huntingtin lowering not only on the movement disorder but also on psychiatric and cognitive features, assuming adequate lowering of huntingtin in the appropriate regions is achieved,” Professor Hayden said.
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Amber L. Southwell et al. 2018. Huntingtin suppression restores cognitive function in a mouse model of Huntington’s disease. Science Translational Medicine 10 (461): eaar3959; doi: 10.1126/scitranslmed.aar3959
