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Sci Rep. 2018 Jun 14;8(1):9112. doi: 10.1038/s41598-018-27165-y.

Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes.

Author information

1
CECS, I-Stem, Corbeil-Essonnes, 91100, France.
2
INSERM U861, I-Stem, Corbeil-Essonnes, 91100, France.
3
UEVE U861, I-Stem, Corbeil-Essonnes, 91100, France.
4
Aix Marseille Univ, INSERM, MMG, Marseille, France.
5
Department of Medical Genetics, Children's Hospital La Timone, Marseille, France.
6
CECS, I-Stem, Corbeil-Essonnes, 91100, France. xnissan@istem.fr.

Abstract

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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