Journal
SCIENTIFIC REPORTS
Volume 8, Issue -, Pages -Publisher
NATURE PUBLISHING GROUP
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Funding
- Association Francaise contre les Myopathies (AFM-Telethon)
- INSERM
- domaine d'interet majeur (DIM) Biotherapies
- Genopole
- European Commission: the laboratoire d'Excellence Revive (Investissement d'Avenir) [ANR-10-LABX-73]
- NeurATRIS: A Translational Research Infrastructure for Biotherapies in Neurosciences (Investissement d'Avenir) [ANR-11-INBS-0011]
- INGESTEM: the National Infrastructure Engineering for Pluripotent and differentiated Stem cells (Investissement d'Avenir) [ANR-11-INBS-0009]
- BioImaging Cell and Tissue Core Facility of the Institut Curie (PICT-IBiSA), a member of the French National Research Infrastructure France-BioImaging [ANR-10-INSB-04]
- Agence Nationale de la Recherche (ANR) [ANR-11-INBS-0009] Funding Source: Agence Nationale de la Recherche (ANR)
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Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic disorder that leads to premature aging. In this study, we used induced pluripotent stem cells to investigate the hypopigmentation phenotypes observed in patients with progeria. Accordingly, two iPS cell lines were derived from cells from HGPS patients and differentiated into melanocytes. Measurements of melanin content revealed a lower synthesis of melanin in HGPS melanocytes as compared to non-pathologic cells. Analysis of the melanosome maturation process by electron microscopy revealed a lower percentage of mature, fully pigmented melanosomes. Finally, a functional rescue experiment revealed the direct role of progerin in the regulation of melanogenesis. Overall, these results report a new dysregulated pathway in HGPS and open up novel perspectives in the study of pigmentation phenotypes that are associated with normal and pathological aging.
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