Insights on timing of Huntington’s Disease onset

Insights on timing of Huntington’s Disease onset

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).

Concepts Keywords
Amino Acid DNA
Brain Neurogenetics
DNA Neurodegeneration
Fair Dealing Huntingtin
Glutamine Trinucleotide repeat disorder
Harvard Neurological disorders
Huntington Autosomal dominant disorders
Massachusetts General Hospital Neuroscience
MGH Organ systems
Nerve Huntington’s disease
Neurodegenerative Diseases Branches of biology
Neurons Onset repeat disorders
Nucleotides Repeat diseases
Pathogenic Fatal disorder
Toxicity

Semantics

Type Source Name
gene UNIPROT ALG3
gene UNIPROT NR4A2
drug DRUGBANK L-Glutamine
pathway BSID Neurodegenerative Diseases
disease MESH neurodegenerative diseases
gene UNIPROT CHL1

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