Alterations in mitochondrial activity and morphology have been demonstrated in human cells and tissues from individuals with Down syndrome (DS), as well as in DS mouse models. An impaired activity of the transcriptional coactivator PGC-1α/PPARGC1Adue to the overexpression of chromosome 21 genes, such as NRIP1/RIP140, has emerged as an underlying cause of mitochondrial dysfunction in DS. We tested the hypothesis that the activation of the PGC-1α pathway might indeed reverse this mitochondrial dysfunction.
Metformin restores the mitochondrial network and reverses mitochondrial dysfunction in Down syndrome cells / Izzo, Antonella; Nitti, Maria; Mollo, Nunzia; Paladino, Simona; Procaccini, Claudio; Faicchia, Deriggio; Calì, Gaetano; Genesio, Rita; Bonfiglio, Ferdinando; Cicatiello, Rita; Polishchuk, Elena; Polishchuk, Roman; Pinton, Paolo; Matarese, Giuseppe; Conti, Anna; Nitsch, Lucio. - In: HUMAN MOLECULAR GENETICS. - ISSN 0964-6906. - 26:6(2017), pp. 1056-1069. [10.1093/hmg/ddx016]
Metformin restores the mitochondrial network and reverses mitochondrial dysfunction in Down syndrome cells
Izzo, Antonella;Nitti, Maria;Mollo, Nunzia;Paladino, Simona;Procaccini, Claudio;Faicchia, Deriggio;Genesio, Rita;Bonfiglio, Ferdinando;Cicatiello, Rita;Matarese, Giuseppe;Conti, Anna;Nitsch, Lucio
2017
Abstract
Alterations in mitochondrial activity and morphology have been demonstrated in human cells and tissues from individuals with Down syndrome (DS), as well as in DS mouse models. An impaired activity of the transcriptional coactivator PGC-1α/PPARGC1Adue to the overexpression of chromosome 21 genes, such as NRIP1/RIP140, has emerged as an underlying cause of mitochondrial dysfunction in DS. We tested the hypothesis that the activation of the PGC-1α pathway might indeed reverse this mitochondrial dysfunction.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
