Structural and functional impact of the POLD1 Ser605del variant in MDPL syndrome: insights from protein–protein interactions

Michela Murdocca; Isabella Romeo; Serena Maccaroni; Antonio Curcio; Gerardo Pepe; Manuela Helmer Citterich; Stefano Alcaro; Giuseppe Novelli; Federica Sangiuolo

doi:10.1186/s40246-025-00848-0

November 12, 2025Human GenomicsOpen Access

Structural and functional impact of the POLD1 Ser605del variant in MDPL syndrome: insights from protein–protein interactions

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Key Points

The research aims to explore the impact of the POLD1 Ser605del variant on structural and functional aspects related to MDPL syndrome.
Identified a novel motif in the Ser605del POLD1 protein
Investigated protein-protein interactions with TRF1
Analyzed links to telomere biology
Explored implications for aging-related therapies
Revealed a link between POLD1 and telomere biology
Demonstrated abnormal interactions with TRF1
Contributed to understanding of premature aging phenotypes

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Implication

Identifying the POLD1 variant's role in premature aging phenotypes and telomere biology, suggesting therapeutic insights.

Abstract

We identified a novel short linear motif (FSLYP) in the Ser605del POLD1 protein that mediates abnormal interaction with TRF1, revealing a structural and functional link between POLD1 and telomere biology, contributing to premature aging phenotypes. This work provides new insights into MDPL pathogenesis and lays the foundation for future research into aging-related therapies.

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Murdocca et al. (2025) studied this question.

synapsesocial.com/papers/692523d4c0ce034ddc35544f https://doi.org/10.1186/s40246-025-00848-0

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Structural and functional impact of the POLD1 Ser605del variant in MDPL syndrome: insights from protein–protein interactions

Key Points

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

Structural and functional impact of the POLD1 Ser605del variant in MDPL syndrome: insights from protein–protein interactions

Key Points

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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