People inherit the genetic mutation for Huntington’s disease, but why do symptoms manifest earlier in some individuals than in others?
Researchers from UBC’s Centre for Molecular Medicine and Therapeutics and BC Children’s Hospital Research Institute embarked on a study to unravel this mystery. Their investigation sought to understand why certain patients experience disease onset a decade or more ahead of their counterparts.
In a recent publication in the journal Neuron, the team unveiled a crucial discovery that sheds light on this variability. They identified a specific genetic variant that seems to hasten disease progression by triggering excessive DNA alterations in the brain’s most vulnerable neurons.
Dr. Michael Hayden, the senior author of the study and a professor at UBC’s Centre for Molecular Medicine and Therapeutics, highlighted the significance of this finding. He emphasized that individuals carrying this genetic variant exhibit a substantially accelerated onset of Huntington’s disease due to repeated expansion of the mutation.
Huntington’s disease is an inherited condition that leads to involuntary movements and mental health issues, according to UBC. While the genetic mutation exists in all cells, the damage primarily targets nerve cells in the brain.
Individuals with the identified genetic variant displayed significantly larger expansions of the Huntington mutation in their neurons, occurring approximately five times more frequently than in those lacking the variant, UBC reports.
The study’s outcomes offer insights into why Huntington’s predominantly affects the brain, despite the mutation being present across the body’s cells. By understanding this mechanism better, there is potential for enhanced treatment approaches.
The study authors believe that targeting the expansion of the genetic mutation could be a pivotal strategy in slowing down disease progression. Suppressing this expansion may hold promise in delaying the onset or advancement of Huntington’s disease.
Keyphrase: Huntington disease genetic mutation
