Authors | Gene | Fonction of the gene | Consequences of genetic mutation |
Elnageeb et al., 2023 [43] | SNCA/PARC 1/ PARC 4 | Regulator of dopamine biosynthesis, release and transport; apoptosis suppressor. | The widespread presence of Lewy bodies throughout the brain and cerebral cortex, as well as neuronal destruction in the locus coeruleus (LC) and SN. |
Zimprich et al., 2004 [44] | LRRK2/PARC8 | The Roco protein family includes the LRRK2 gene component. It is involved in cytoskeletal dynamics, autophagy and vesicular transport | LRRK2 mutations cause autosomal dominant parkinsonism with pleomorphic pathology. |
Vozdek et al., 2023 [45] | PARC2/ PRKN | Parkin is a 465-amino acid cytosolic E3 ubiquitin ligase involved in proteasome-mediated protein degradation. It damages misfolded and overproduced proteins, as well as ubiquitin. mitophagy regulator. | Absence of Lewy bodies (LBs), apoptosis of dopaminergic neurons in the substantia nigra (SN) and neurofibrillaries |
Zhu et al., 2017 [46] | DJ-1 PARC7 | Many tissues and organs, including the brain, contain the DJ-1 protein. This protein acts as a chaperone molecule, preventing cells from oxidative stress. DJ-1 assists in the folding of damaged proteins and the assembly of specific proteins into the correct three-dimensional shape. Required for mitochondrial morphology and function | Lewy body disease (LB) |
Rauschendorf et al., 2017 [20] | PTEN (ROSE1 PARK6) | Role of PTEN in DNA repair in Parkinson’s disease | Since PTEN expression seems to be one of the dominant determinants of neuronal cell death. |
Goker-Alpan et al., 2004 [47] | ACS | Glucocerebrosidase | GBA encodes a lysosomal protein that degrades glucocebrosis |
Li et al., 2019 [48] | ACSL4 | Preferably converts arachidonic acid into acyl-CoA fatty esters, thus playing a key role in ferroptosis | Loss-of-function mutations in ACSL4 deplete lipid peroxidation substrates and increase resistance to ferroptosis |
Liu et al., 2022 [49] | LOX | Involved in polyunsaturated fatty acid peroxidation in ferroptosis Tumor suppressor gene | LOX inhibition significantly suppresses cPLA2-dependent microglial induction of reactive oxygen species (ROS) and nitric oxide (NO) |
Fol et al., 2016 [50] | APPLICATION | Regulates synapse formation, neuronal plasticity and iron export | APPsα, TREM2 and IDE, resulting in decreased levels of Aβ |
Dar et al., 2023 [51] | GPX4 | Reduces membrane phospholipid hydroperoxides to suppress ferroptose | lipid hydroperoxides accumulating in GPX4-deficient conditions |
Islam MT, 2017 [52] | ESG | Glutathione biosynthesis | Loss of function of the glutathione synthetase (GSS) gene leads to 5-oxoprolinuria (pyroglutamic acrithemia) |
Ferrari et al., 2023 [53] | CARTE | Microtubule-associated protein; regulates APP trafficking in neurons | The MAPT gene mutation expressed increased levels of 4R-TAU isoforms |