Table 1.
The different types of OPTN related diseases and autophagy related mechanisms
| Type of disease | Diseases | Mechanism | Reference |
|---|---|---|---|
| Neurodegenerative diseases | Glaucoma | OPTNE50K disrupts the interaction with RAB8 and induces oxidative stress; OPTNE50K enhances the interaction with TBK1 but reduces autolysosomes; OPTNE50K disrupts the oligomeric state of OPTN | [29,82,133,134] |
| ALS | OPTNE478G disrupts the ubiquitin-binding function of OPTN and affects PRKN-mediated mitophagy | [16] | |
| PD | Increased OPTN expression and colocalized puncta in PD-relevant brain regions with specific impairments of autophagy | [135] | |
| HD | Impaired autophagic clearance of aggregates colocalized with OPTN | [96,136–138] | |
| NIID | Unclear, abnormal accumulation of OPTN and its binding partner MYO6 in intranuclear inclusions of NIID | [87,136] | |
| Inflammatory diseases | CD | Clearance of intracellular bacteria by OPTN mediated xenophagy | [95,96] |
| PDB | There are several PDB genes (including OPTN) with functions related to the autophagic system | [106] | |
| RA | OPTN is upregulated while the related autophagy mechanism is unclear | [110] | |
| OP | optn deficiency caused inhibition of selectively degradation of FABP3 by autophagy | [120] | |
| ALF | OPTN is upregulated accompanied with autophagy activation after APAP treatment | [122] | |
| Cancer | Lung cancer | HACE1-OPTN axis mediated autophagy | [28] |
| Pancreatic cancer | OPTN involved chaperone-mediated autophagy (CMA) | [124] | |
| Nephropathy | DN | OPTN mediated mitophagy | [128,129] |
| AKI | OPTN mediated mitophagy | [130] |
AKI: acute kidney injury; ALF: acute liver failure; ALS: amyotrophic lateral sclerosis; CD: Crohn disease; DN: diabetic nephropathy; HD: Huntington disease; NIID, neuronal intranuclear inclusion disease; OP: osteoporosis; PD: Parkinson disease; PDB: Paget disease of bone; RA: rheumatoid arthritis.