Table 1.

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

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.

OXPHOS Oxidative phosphorylation