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Article

Mitochondrial dysfunction in mandibular hypoplasia, deafness and progeroid features with concomitant lipodystrophy (MDPL) patients.

Aging - 23 Feb 2022

Murdocca Michela, Spitalieri Paola, Cappello Angela, Colasuonno Fiorella, Moreno Sandra, Candi Eleonora, D'Apice Maria Rosaria, Novelli Giuseppe, Sangiuolo Federica

Abstract excerpt

Mandibular hypoplasia, Deafness and Progeroid features with concomitant Lipodystrophy is a rare, genetic, premature aging disease named MDPL Syndrome, due to almost always a de novo variant in POLD1 gene, encoding the DNA polymerase δ. In previous in vitro studies, we have already described several hallmarks of aging, including genetic damage, telomere shortening, cell senescence and proliferation defects. Since...

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Identifiers

PMID: 35196257
DOI: 10.18632/aging.203910
PMCID: PMC8908938

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