Functional analysis of POLD1 p.ser605del variant: the aging phenotype of MDPL syndrome is associated with an impaired DNA repair capacity
Michela Murdocca, Paola Spitalieri, Claudia De Masi, Ion Udroiu, Jessica Marinaccio, Massimo Sanchez, Rosa Valentina Talarico, Chiara Fiorillo, Monica D’Adamo, Paolo Sbraccia, Maria Rosaria D’Apice, Giuseppe Novelli, Antonella Sgura, Federica Sangiuolo
Abstract
as a primary pathogenetic cause of MDPL. The understanding of the mechanisms linking these cellular characteristics to the accelerated aging and to the wide spectrum of affected tissues and clinical symptoms in the MDPL patients may provide opportunities to develop therapeutic treatments for progeroid syndromes.
Topics & Concepts
PhenotypeDNA repairGeneticsClinical phenotypeBiologyDNA damageDNAGeneNuclear Structure and FunctionDNA Repair MechanismsGenetics and Neurodevelopmental Disorders