Work

A longevity-associated variant of the human BPIFB4 gene prevents diastolic dysfunction in progeria mice

Year: 2025

Type: article

Abstract: Hutchinson-Gilford Progeria Syndrome (HGPS) is caused by a mutation in the Lamin A/C gene ( LMNA ), resulting in the synthesis and accumulation of an abnormal protein, progerin, which disrupts the structural integrity and function of the nucleus and nucleolus. Affected individuals exhibit a senescent phenotype and die prematurely due to cardiovascular complications. 1 The exceptional case of Sammy Basso, who lived until the age of 28, has brought renewed public attention to this rare disease.

Source: Signal Transduction and Targeted Therapy

DOI: 10.1038/s41392-025-02416-3

Authors: Yan Qiu, Monica Cattaneo, Anna Maciag, Annibale A. Puca, Paolo Madeddu

Institutions: University of Bristol, MultiMedica, University of Salerno

Language: English

Topic: Nuclear Structure and Function

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,790