Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain

PF Shelbourne, C Keller-McGandy, WL Bi… - Human molecular …, 2007 - academic.oup.com
PF Shelbourne, C Keller-McGandy, WL Bi, SR Yoon, L Dubeau, NJ Veitch, JP Vonsattel…
Human molecular genetics, 2007academic.oup.com
Huntington disease is caused by the expansion of a CAG repeat encoding an extended
glutamine tract in a protein called huntingtin. Here, we provide evidence supporting the
hypothesis that somatic increases of mutation length play a role in the progressive nature
and cell-selective aspects of HD pathogenesis. Results from micro-dissected tissue and
individual laser-dissected cells obtained from human HD cases and knock-in HD mice
indicate that the CAG repeat is unstable in all cell types tested although neurons tend to …
Abstract
Huntington disease is caused by the expansion of a CAG repeat encoding an extended glutamine tract in a protein called huntingtin. Here, we provide evidence supporting the hypothesis that somatic increases of mutation length play a role in the progressive nature and cell-selective aspects of HD pathogenesis. Results from micro-dissected tissue and individual laser-dissected cells obtained from human HD cases and knock-in HD mice indicate that the CAG repeat is unstable in all cell types tested although neurons tend to have longer mutation length gains than glia. Mutation length gains occur early in the disease process and continue to accumulate as the disease progresses. In keeping with observed patterns of cell loss, neuronal mutation length gains tend to be more prominent in the striatum than in the cortex of low-grade human HD cases, less so in more advanced cases. Interestingly, neuronal sub-populations of HD mice appear to have different propensities for mutation length gains; in particular, smaller mutation length gains occur in nitric oxide synthase-positive striatal interneurons (a relatively spared cell type in HD) compared with the pan-striatal neuronal population. More generally, the data demonstrate that neuronal changes in HD repeat length can be at least as great, if not greater, than those observed in the germline. The fact that significant CAG repeat length gains occur in non-replicating cells also argues that processes such as inappropriate mismatch repair rather than DNA replication are involved in generating mutation instability in HD brain tissue.
Oxford University Press