Cited by 189Nuclear Structure and FunctionGenetics, Aging, and Longevity in Model OrganismsDNA Repair Mechanisms

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Molecular bases of progeroid syndromes

Navarro, Claire L., Cau, Pierre, Lévy, Nicolas·2006·Human Molecular Genetics

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Abstract

Progeroid syndromes (PSs) constitute a group of disorders characterized by clinical features mimicking physiological aging at an early age. In some of these syndromes, biological hallmarks of aging are also present, whereas in others, a link with physiological aging, if any, remains to be elucidated. These syndromes are clinically and genetically heterogeneous and most of them, including Werner syndrome and Hutchinson-Gilford progeria, are known as 'segmental aging syndromes', as they do not feature all aspects usually associated to physiological aging. However, all the characterized PSs enter in the field of rare monogenic disorders and several causative genes have been identified. These can be separated in subcategories corresponding to (i) genes encoding DNA repair factors, in particular, DNA helicases, and (ii) genes affecting the structure or post-translational maturation of lamin A, a major nuclear component. In addition, several animal models featuring premature aging have abnormal mitochondrial function or signal transduction between membrane receptors, nuclear regulatory proteins and mitochondria: no human pathological counterpart of these alterations has been found to date. In recent years, identification of mutations and their functional characterization have helped to unravel the cellular processes associated to segmental PSs. Recently, several studies allowed to establish a functional link between DNA repair and A-type lamins-associated syndromes, evidencing a relation between these syndromes, physiological aging and cancer. Here, we review recent data on molecular and cellular bases of PSs and discuss the mechanisms involved, with a special emphasis on lamin A-associated progeria and related disorders, for which therapeutic approaches have started to be developed.

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Authors: Navarro, C. L., Cau, P., & Lévy, N.
Affiliations: Inserm (FR)
Corresponding author: Lévy, Nicolas
ORCID: Navarro, Claire L.
Cau, Pierre
Lévy, Nicolas
Venue: Human Molecular Genetics
Publisher: Oxford University Press (OUP)
Published: 2006-10-15
Volume: 15
Issue: suppl_2
Pages: R151-R161
ISSN: 0964-6906 (ISSN-L)
1460-2083
DOI: 10.1093/hmg/ddl214
OpenAlex: W2150619381
Cited by: 189
References: 158
Citations by year: 2026: 4 · 2025: 4 · 2024: 2 · 2023: 5 · 2022: 3 · 2021: 11 · 2020: 8 · 2019: 6 · 2018: 9 · 2017: 9 · 2016: 14 · 2015: 8 · 2014: 13 · 2013: 6 · 2012: 12
FWCI: 1.19
Type: journal article
Language: en
Open access: closed
Locations: Human Molecular Genetics (publishedVersion)
PubMed (publishedVersion)
Funders: Institut National de la Santé et de la Recherche Médicale
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
Life Sciences › Biochemistry, Genetics and Molecular Biology › Aging › Genetics, Aging, and Longevity in Model Organisms
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
Keywords: progeroid syndromes, premature aging, Werner syndrome, Hutchinson-Gilford progeria syndrome, lamin A, DNA helicase, DNA repair, mitochondrial dysfunction, cancer, treatment options
MeSH terms: Liver X Receptors, Adult, Child, Cockayne Syndrome, DNA Repair, Humans, Mitochondria, Models, Biological, Models, Genetic, Progeria, Syndrome, Werner Syndrome, Receptors, Cytoplasmic and Nuclear, Lamin Type A, RecQ Helicases, Orphan Nuclear Receptors

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Molecular bases of progeroid syndromes

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