Journal
NEUROBIOLOGY OF DISEASE
Volume 156, Issue -, Pages -Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.nbd.2021.105405
Keywords
Retinal dystrophies; Retinitis pigmentosa; CERKL; Mitochondrial dysfunction
Categories
Funding
- CIBERER/ISCIII
- IBUB
- FI grant (Generalitat de Catalunya)
- ACCI 2019 (CIBERER/ISCIII)
- Ministerio de Economia y Competitividad/FEDER [SAF2016-80937-R]
- Ministerio de Ciencia e Innovacion/FEDER [PID2019-108578RB-I00]
- Ministerio de Ciencia e Innovacion [SAF2017-85722-R]
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CERKL is a gene associated with genetic retinal degeneration, and its mutations affect the function and structure of retinal mitochondria, leading to retinal dysfunction.
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 CerklKD/KO (knockdown/knockout) mouse retinas cause increase of autophagy, mitochondrial fragmentation, alteration of mitochondrial distribution, and dysfunction of mitochondrialdependent bioenergetics and metabolism. Our results support CERKL as a regulator of autophagy and mitochondrial biology in the mammalian retina.
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