Transcriptome profiling of human dermal MDPL fibroblasts reveals a characteristic molecular signature providing insights into pathogenic mechanisms.

ABSTRACT: The emerging perception that the mammalian dermis encloses fibroblasts with differing functional identities has profound implications for understanding a wide range of genetic pathological states, including aging. MDPL syndrome (mandibular hypoplasia, deafness, progeroid characteristics, and lipodystrophy; MIM #615381) is an extremely rare, genetic progeroid disorder. Patients reported variants in the POLD1 gene (NM_002691.3), encoding for the evolutionarily conserved catalytic subunit of DNA polymerase delta (Polδ). The protein is a critical enzyme reliable for synthesizing nascent DNA strands in the eukaryotic genome. Importantly, Polδ also serves to repair DNA lesions due to mutagen exposure. As the natural history of MDPL still remains poorly known, we have performed RNA sequencing ana

SUBMITTER: Murdocca M 

PROVIDER: S-EPMC12675696 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature