DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism.

doi:10.1093/hmg/ddaa014

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Article

DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism.

Human molecular genetics - 21 Jul 2020

Maresca Alessandra, Del Dotto Valentina, Capristo Mariantonietta, Scimonelli Emanuela, Tagliavini Francesca, Morandi Luca, Tropeano Concetta Valentina, Caporali Leonardo, Mohamed Susan, Roberti Marina, Scandiffio Letizia, Zaffagnini Mirko, Rossi Jacopo, Cappelletti Martina, Musiani Francesco, Contin Manuela, Riva Roberto, Liguori Rocco, Pizza Fabio, La Morgia Chiara, Antelmi Elena, Loguercio Polosa Paola, Mignot Emmanuel, Zanna Claudia, Plazzi Giuseppe, Carelli Valerio

Abstract excerpt

ADCA-DN and HSN-IE are rare neurodegenerative syndromes caused by dominant mutations in the replication foci targeting sequence (RFTS) of the DNA methyltransferase 1 (DNMT1) gene. Both phenotypes resemble mitochondrial disorders, and mitochondrial dysfunction was first observed in ADCA-DN. To explore mitochondrial involvement, we studied the effects of DNMT1 mutations in fibroblasts from four ADCA-DN and two...

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PMID: 31984424
DOI: 10.1093/hmg/ddaa014
PMCID: PMC7372549

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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