LOI Modifier Linked to Neuron Loss in Huntington’s Disease | Rare Diseases Today - DocWireNews
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Loss-of-interruption variants in the CAG repeat of the huntingtin (HTT) gene can accelerate Huntington’s disease (HD) onset and progression. Medium spiny neurons (MSNs), which are gradually lost in HD, undergo selective somatic CAG expansion, but it is still unclear how this expansion relates to MSN pathology. In a study published in Neuron, Chris Kay, PhD, of the University of British Columbia in Vancouver, and colleagues assessed somatic HTT CAG expansion in peripheral blood, postmortem brain tissue, and isolated MSNs from patients with HD, both with and without the CAG-CCG loss-of-interruption (LOI) modifier variant. Results showed that, while MSNs with large (111–150 CAG) and very large (>150 CAG) somatic expansions were rare early in HD, these larger expansions accumulated as disease duration increased. The CAG-CCG LOI modifier was linked with about a five-fold increase in the proportion of MSNs with large and very large expansions. Patients with the modifier also had fewer caudate MSNs, suggesting the modifier accelerates MSN loss alongside increased somatic CAG expansion. The modifier was also linked with reduced small somatic expansions in the blood.
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