Aging is an extremely complex biological process. Aging, cancer and inflammation represent a trinity, object of many interesting researches. The accumulation of DNA damage and its consequences progressively interfere with cellular function and increase susceptibility to developing aging condition.DNA Polymerase delta (Pol 8), encoded by POLD1 gene (MIM#174761) on 19q13.3, is well implicated in many steps of the replication program and repair. Thanks to its exonuclease and polymerase activities, the enzyme is involved in the regulation of the cell cycle, DNA synthesis, and DNA damage repair processes. Damaging variants within the exonuclease domain predispose to cancers, while those occurring in the poly-merase active site cause the autosomal dominant Progeroid Syndrome called MDPL, Mandibular hypoplasia, Deafness and Progeroid features with concomitant LipodystrophySince DNA damage represents the main cause of ageing and age-related pathologies, an overview of critical Pol 8 activities will allow to better understand the associations between DNA damage and nearly every aspect of the ageing process, helping the researchers to counteract all the ageing-pathologies at the same time.

Murdocca, M., Spitalieri, P., D'Apice, M.r., Novelli, G., Sangiuolo, F. (2023). From cue to meaning: The involvement of POLD1 gene in DNA replication, repair and aging. MECHANISMS OF AGEING AND DEVELOPMENT, 211, 111790 [10.1016/j.mad.2023.111790].

From cue to meaning: The involvement of POLD1 gene in DNA replication, repair and aging

Murdocca, Michela;Spitalieri, Paola;D'Apice, Maria Rosaria;Novelli, Giuseppe;Sangiuolo, Federica
2023-04-01

Abstract

Aging is an extremely complex biological process. Aging, cancer and inflammation represent a trinity, object of many interesting researches. The accumulation of DNA damage and its consequences progressively interfere with cellular function and increase susceptibility to developing aging condition.DNA Polymerase delta (Pol 8), encoded by POLD1 gene (MIM#174761) on 19q13.3, is well implicated in many steps of the replication program and repair. Thanks to its exonuclease and polymerase activities, the enzyme is involved in the regulation of the cell cycle, DNA synthesis, and DNA damage repair processes. Damaging variants within the exonuclease domain predispose to cancers, while those occurring in the poly-merase active site cause the autosomal dominant Progeroid Syndrome called MDPL, Mandibular hypoplasia, Deafness and Progeroid features with concomitant LipodystrophySince DNA damage represents the main cause of ageing and age-related pathologies, an overview of critical Pol 8 activities will allow to better understand the associations between DNA damage and nearly every aspect of the ageing process, helping the researchers to counteract all the ageing-pathologies at the same time.
apr-2023
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/03 - GENETICA MEDICA
English
Aging
DNA polymerase delta
DNA repair
MDPL
Mitochondria
Murdocca, M., Spitalieri, P., D'Apice, M.r., Novelli, G., Sangiuolo, F. (2023). From cue to meaning: The involvement of POLD1 gene in DNA replication, repair and aging. MECHANISMS OF AGEING AND DEVELOPMENT, 211, 111790 [10.1016/j.mad.2023.111790].
Murdocca, M; Spitalieri, P; D'Apice, Mr; Novelli, G; Sangiuolo, F
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/321973
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