Skip to main content

Table 1 List of genes mapping to Hsa21 functionally associated to the mitochondrial abnormalities in DS

From: Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets

Hsa21 Genes involved in Mitochondrial function Effects on mitochondrial phenotype
NRIP1/RIP140 Decreases respiratory efficiency and alters morphology of mitochondria.
SUMO3 Modulates NRIP1 repressive activity and attenuates the transcriptional activity of PGC-1α.
DYRK1A Controls PGC-1α via the calcineurin/NFAT pathway.
DSCR1/RCAN1 Controls PGC-1α via the calcineurin/NFAT pathway and is associated with calcium overloading.
SOD1 Is associated with oxidative stress.
APP Induces mitochondrial oxidative stress and mitochondrial dysfunction.
CBS Influences the mitochondrial redox activity negatively regulating methylation processes.
ETS2 Promotes the activation of a mitochondrial death pathway.
ITSN1 Regulates the mitochondrial apoptotic pathway.
PREP1 Inhibits the OXPHOS negatively regulating PGC-1α and mitochondrial fusion genes OPA1 and MFN2.
hsa-mir-155 Affects mitochondrial biogenesis by targeting TFAM.
hsa-let-7c May affect mitochondrial function by targeting ANT1.
  1. OXPHOS Oxidative phosphorylation