Discovery of a new hereditary RECQ helicase disorder RECON syndrome positions the replication stress response and genome homeostasis as centrally important processes in aging and age-related disease.
Aging
Genetic disease
Helicase
RECON syndrome
RECQ
RECQL1
Journal
Ageing research reviews
ISSN: 1872-9649
Titre abrégé: Ageing Res Rev
Pays: England
ID NLM: 101128963
Informations de publication
Date de publication:
04 2023
04 2023
Historique:
received:
23
12
2022
revised:
02
02
2023
accepted:
15
02
2023
pmc-release:
01
04
2024
pubmed:
23
2
2023
medline:
9
3
2023
entrez:
22
2
2023
Statut:
ppublish
Résumé
Characterizing the molecular deficiencies underlying human aging has been a formidable challenge as it is clear that a complex myriad of factors including genetic mutations, environmental influences, and lifestyle choices influence the deterioration responsible for human pathologies. In addition, the common denominators of human aging, exemplified by the newly updated hallmarks of aging (López-Otín et al., 2023), suggest multiple avenues and layers of crosstalk between pathways important for genome and cellular homeostasis, both of which are major determinants of both good health and lifespan. In this regard, we postulate that hereditary disorders characterized by chromosomal instability offer a unique window of insight into aging and age-related disease processes. Recently, we discovered a new RECQ helicase disorder, designated RECON syndrome attributed to bi-allelic mutations in the RECQL1 gene (Abu-Libdeh et al., 2022). Cells deficient in RECQL1 exhibit genomic instability and a compromised response to replication stress, providing further evidence for the significance of genome homeostasis to suppress disease phenotypes. Here we provide a perspective on the pathology of RECON syndrome to inform the reader as to how molecular defects in the RECQL1 gene contribute to underlying deficiencies in nucleic acid metabolism often seen in certain aging or age-related diseases.
Identifiants
pubmed: 36805074
pii: S1568-1637(23)00046-6
doi: 10.1016/j.arr.2023.101887
pmc: PMC10018417
mid: NIHMS1879340
pii:
doi:
Substances chimiques
RecQ Helicases
EC 3.6.4.12
Types de publication
Journal Article
Review
Research Support, N.I.H., Intramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
101887Subventions
Organisme : Intramural NIH HHS
ID : Z01 AG000741
Pays : United States
Informations de copyright
Published by Elsevier B.V.
Déclaration de conflit d'intérêts
Conflict of Interest Statement All the authors have no conflicts of interest.
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