Progeroid syndromes induced by mutations in lamin A or in its interactors – named progeroid laminopathies – are model systems for the dissection of the molecular pathways causing physio- logical and premature aging. A large amount of data, based mainly on the Hutchinson Gilford Progeria syndrome (HGPS), one of the best characterized progeroid laminopathy, has highlighted the role of lamins in multiple DNA activities, including replication, repair, chromatin organization and telomere function. On the other hand, the phenotypes generated by mutations affecting genes directly acting on DNA function, as mutations in the helicases WRN and BLM or in the polymerase polδ, share many of the traits of progeroid laminopathies. These evidences support the hypothesis of a concerted implication of DNA function and lamins in aging. We focus here on these aspects to contribute to the comprehension of the driving forces acting in progeroid syndromes and premature aging.

Genomic instability and DNA replication defects in progeroid syndromes / Burla, Romina; LA TORRE, Mattia; Merigliano, Chiara; Verni', Fiammetta; Saggio, Isabella. - In: NUCLEUS. - ISSN 1949-1034. - STAMPA. - (2018). [10.1080/19491034.2018.1476793]

Genomic instability and DNA replication defects in progeroid syndromes

Romina Burla;Mattia La Torre;Chiara Merigliano;Fiammetta Vernì;Isabella Saggio
2018

Abstract

Progeroid syndromes induced by mutations in lamin A or in its interactors – named progeroid laminopathies – are model systems for the dissection of the molecular pathways causing physio- logical and premature aging. A large amount of data, based mainly on the Hutchinson Gilford Progeria syndrome (HGPS), one of the best characterized progeroid laminopathy, has highlighted the role of lamins in multiple DNA activities, including replication, repair, chromatin organization and telomere function. On the other hand, the phenotypes generated by mutations affecting genes directly acting on DNA function, as mutations in the helicases WRN and BLM or in the polymerase polδ, share many of the traits of progeroid laminopathies. These evidences support the hypothesis of a concerted implication of DNA function and lamins in aging. We focus here on these aspects to contribute to the comprehension of the driving forces acting in progeroid syndromes and premature aging.
2018
Lamin; DNA replication; progeria; nuclear lamina; aging; DNA damage
01 Pubblicazione su rivista::01a Articolo in rivista
Genomic instability and DNA replication defects in progeroid syndromes / Burla, Romina; LA TORRE, Mattia; Merigliano, Chiara; Verni', Fiammetta; Saggio, Isabella. - In: NUCLEUS. - ISSN 1949-1034. - STAMPA. - (2018). [10.1080/19491034.2018.1476793]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1122355
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