Researchers uncover how slow CAG repeat expansions in neurons drive Huntington’s disease over decades.
By Dr. Sanchari Sinha Dutta, Ph.D.Reviewed by Benedette Cuffari, M.Sc.Jan 24 2025 Study uncovers how gradual CAG repeat expansion in neurons drives the onset of Huntington’s disease, offering new insights for potential therapeutic interventions.
What causes HD? HD is a life-threatening neurodegenerative disease that typically arises due to the inheritance of a DNA triplet repeat n in exon 1 of the huntingtin gene. This CAG repeat encodes for a polyglutamine tract within the HTT protein, which is involved in regulating gene expression, transporting materials between neurons, and protecting cells from death.
Gradual neuronal degeneration driven by CAG expansion Despite existing evidence on the genetic basis of HD, it remains unclear why the disease-causing mutation induces degeneration in specific neurons only during midlife after decades of biological latency. Notably, a CAP score of up to 300 is typically provided to HD patients without clinical motor symptoms, whereas those with CAP scores of 350 or more are experiencing HD symptoms. HD patients with CAP scores of 600 or more, which often reflects patients with advanced caudate atrophy, lost 80-99% of their SPNs, thus demonstrating the graduate degeneration of the caudate that is accompanied by increasingly severe HD symptom manifestation.
Computational extrapolation of the experimental data was applied to determine the rate and timing of expansion of CAG repeats in SPNs. To this end, a slow initial expansion that occurred less than once each year during the first two decades of life was observed.
Neurons Allele Cell DNA Exon Gene Gene Expression Genetic Germline Neurodegeneration Neurodegenerative Disease Neuron Protein RNA
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