Antonella Izzo, Maria Nitti, Nunzia Mollo, Simona Paladino, Claudio Procaccini, Deriggio Faicchia, Gaetano Calì, Rita Genesio, Ferdinando Bonfiglio, Rita Cicatiello, Elena Polishchuk, Roman Polishchuk, Paolo Pinton, Giuseppe Matarese, Anna Conti, Lucio Nitsch
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.
January 13, 2017: Human Molecular Genetics