Journal
SCIENCE
Volume 369, Issue 6505, Pages 787-+Publisher
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.aax3338
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Funding
- Agence Nationale pour la Recherche [ANR-15-IDEX-02]
- Agence Nationale pour la Recherche (Network of centers of excellence in neurodegeneration COEN)
- Fondation pour la Recherche Medicale [DEQ 20170336752]
- Fondation pour la Recherche sur le Cerveau
- AGEMED program from INSERM
- CIFRE [2012-0401]
- La ligue contre le cancer post-doctoral fellowship
- NIH [NS077926]
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Although Huntington's disease is a late-manifesting neurodegenerative disorder, both mouse studies and neuroimaging studies of presymptomatic mutation carriers suggest that Huntington's disease might affect neurodevelopment. To determine whether this is actually the case, we examined tissue from human fetuses (13 weeks gestation) that carried the Huntington's disease mutation. These tissues showed clear abnormalities in the developing cortex, including mislocalization of mutant huntingtin and junctional complex proteins, defects in neuroprogenitor cell polarity and differentiation, abnormal ciliogenesis, and changes in mitosis and cell cycle progression. We observed the same phenomena in Huntington's disease mouse embryos, where we linked these abnormalities to defects in interkinetic nuclear migration of progenitor cells. Huntington's disease thus has a neurodevelopmental component and is not solely a degenerative disease.
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