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. |