Loss of Ten1 in Mice Induces Telomere Shortening and Models Human Dyskeratosis Congenita

    April 2025 in “ Science Advances ”
    Adrián Sanz‐Moreno, Lore Becker, Kan Xie, Patricia da Silva‐Buttkus, Nathalia Romanelli Vicente Dragano, Juan Antonio Aguilar‐Pimentel, Oana V. Amarie, Julia Calzada‐Wack, Markus Kraiger, Stefanie Leuchtenberger, Claudia Seisenberger, Susan Marschall, Birgit Rathkolb, Enzo Scifo, Ting Liu, Anoja Thanabalasingam, Raúl Sánchez-Vazquez, Paula Felippe Martinez, Marı́a A. Blasco, Sharon A. Savage, Helmut Fuchs, Dan Ehninger, Valérie Gailus‐Durner, Martin Hrabě de Angelis
    TLDR Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
    The study examines the impact of Ten1 deficiency in mice, modeling human dyskeratosis congenita (DC) and related telomere biology disorders. Using CRISPR-Cas9, researchers created Ten1 knockout mice, which showed telomere shortening, reduced lifespan, alopecia, skin hyperpigmentation, and other DC symptoms. The study involved 29 homozygous and 25 wild-type mice, revealing significant telomere length reduction and increased apoptosis across various tissues. Molecular analyses indicated decreased cell proliferation, stem cell depletion, and activation of the p53/p21 signaling pathway. These findings underscore the critical role of Ten1 in telomere maintenance and its association with aging and telomere-related pathologies.
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