| First Author | Mirra S | Year | 2021 |
| Journal | Neurobiol Dis | Volume | 156 |
| Pages | 105405 | PubMed ID | 34048907 |
| Mgi Jnum | J:307395 | Mgi Id | MGI:6720607 |
| Doi | 10.1016/j.nbd.2021.105405 | Citation | Mirra S, et al. (2021) CERKL, a retinal dystrophy gene, regulates mitochondrial function and dynamics in the mammalian retina. Neurobiol Dis 156:105405 |
| abstractText | The retina is a highly active metabolic organ that displays a particular vulnerability to genetic and environmental factors causing stress and homeostatic imbalance. Mitochondria constitute a bioenergetic hub that coordinates stress response and cellular homeostasis, therefore structural and functional regulation of the mitochondrial dynamic network is essential for the mammalian retina. CERKL (ceramide kinase like) is a retinal degeneration gene whose mutations cause Retinitis Pigmentosa in humans, a visual disorder characterized by photoreceptors neurodegeneration and progressive vision loss. CERKL produces multiple isoforms with a dynamic subcellular localization. Here we show that a pool of CERKL isoforms localizes at mitochondria in mouse retinal ganglion cells. The depletion of CERKL levels in Cerkl(KD/KO)(knockdown/knockout) mouse retinas cause increase of autophagy, mitochondrial fragmentation, alteration of mitochondrial distribution, and dysfunction of mitochondrial-dependent bioenergetics and metabolism. Our results support CERKL as a regulator of autophagy and mitochondrial biology in the mammalian retina. |
