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  1. Genetics and Pathophysiology of Premature Aging

Genetics and Pathophysiology of Premature Aging

Sahar Elouej et al.
September 11, 2020

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

Progeria, the phenomenon of premature aging, is an ultra-rare genetic condition. A recent study reported mutations in MTX2 as the cause of a novel progeroid syndrome and revealed mitochondrial dysfunction as contributing to the pathophysiology in progeria. The study, which utilized CENTOGNE’s mutation database and biobank, was published in the prestigious journal Nature Communications.