Pluripotent stem cells to model Hutchinson-Gilford progeria syndrome (HGPS): Current trends and future perspectives for drug discovery |
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| Affiliation: | 1. INSERM U861, I-STEM, AFM, Institute for Stem cell Therapy and Exploration of Monogenic diseases, 5 rue Henri Desbruères, 91030 Evry Cedex, France;2. UEVE, I-STEM, AFM, Institute for Stem cell Therapy and Exploration of Monogenic diseases, 5 rue Henri Desbruères, 91030 Evry Cedex, France;3. CECS, I-STEM, AFM, Institute for Stem cell Therapy and Exploration of Monogenic diseases, 5 rue Henri Desbruères, 91030 Evry Cedex, France;1. Department of Medicine, Division of Hematology Oncology, University of California San Francisco UCSF, San Francisco, CA, USA;2. Thoracic and GI Oncology Branch, National Cancer Institute, Bethesda, MD, USA;3. Division of Hematology/Oncology, University of Pennsylvania, Philadelphia, PA, USA;4. Gastrointestinal Oncology and Mesothelioma Programs, Section of Hematology/Oncology, University of Chicago, Chicago, IL, USA;5. Department of Thoracic Oncology, H Lee Moffitt Cancer Center, Tampa, FL, USA;6. Clinical and Research Development, Aduro Biotech, Inc., Berkeley, CA, USA;7. Cell, Developmental & Cancer Biology Department, Oregon Health & Science University, Portland, OR, USA;1. NIHR Surgical Reconstruction and Microbiology Research Centre, Institute of Inflammation and Ageing, Birmingham University Medical School, Birmingham B15 2TT, United Kingdom;2. Healing Foundation Centre for Burns Research, Queen Elizabeth Hospital, Birmingham B15 2WB, United Kingdom;1. Department of Molecular Medicine, The Scripps Research Institute, 10550 N Torrey Pines Rd, La Jolla, CA 92037, United States;2. Department of Anatomy and Cell Biology and CIBERNED, University of Cantabria-IDIVAL, Cardenal H Oria s/n, 39011 Santander, Spain;1. Department of Anesthesia, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA;2. Department of Pediatrics, Hasbro Children’s Hospital and Warren Alpert Medical School of Brown University, Providence, RI 02912, USA;3. Division of Biology and Medicine, Brown University, Providence, RI 02912, USA;4. Departamento de Bioquímica y Biología Molecular, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, 33006 Oviedo, Spain;5. National Cancer Institute, NIH, Bethesda, MD 20892, USA |
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| Abstract: | Progeria, or Hutchinson–Gilford progeria syndrome (HGPS), is a rare, fatal genetic disease characterized by an appearance of accelerated aging in children. This syndrome is typically caused by mutations in codon 608 (p.G608G) of the LMNA, leading to the production of a mutated form of lamin A precursor called progerin. In HGPS, progerin accumulates in cells causing progressive molecular defects, including nuclear shape abnormalities, chromatin disorganization, damage to DNA and delays in cell proliferation. Here we report how, over the past five years, pluripotent stem cells have provided new insights into the study of HGPS and opened new original therapeutic perspectives to treat the disease. |
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| Keywords: | Ageing Pluripotent stem cells Progeria |
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