Publication date: Aug 09, 2019
When James Gusella, Ph. D., Jong-Min Lee, Ph. D., and Marcy MacDonald, Ph. D., of the Molecular Neurogenetics Unit in the Center for Genomic Medicine at Massachusetts General Hospital (MGH), and their colleagues in the Genetic Modifiers of Huntington’s Disease Consortium analyzed information on more than 9,000 individuals with HD, they found that the timing of HD onset was due to a property of the expanded CAG repeat in an individual’s DNA, not due to the length of polyglutamine.
In addition, investigators found that multiple genes involved in DNA maintenance and repair can modify the timing of HD onset, making it either earlier or later than expected based upon the length of the inherited CAG repeat.
Lee et al, CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset, Cell (2019).