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A. Garanto, M. Tuson, R. Gonzàlez-Duarte, G. Marfany; Functional Characterization of CERKL, a Retinitis Pigmentosa Gene. Invest. Ophthalmol. Vis. Sci. 2008;49(13):4004.
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Retinitis Pigmentosa is a highly heterogeneous genetic disease, where more than 30 causative genes have been already reported. Our group identified a previously unannotated gene, CERKL, as responsible for this disease in 3 different spanish families. CERKL encodes a pressumptive lipid kinase that shares similarity to the human ceramide kinase. Ceramides belong to the sphingolipid group of membrane lipids. Evidences have lately grown in favor of the involvement of sphingolipids in the regulation of relevant cellular and physiological processes, such as cell growth, differentiation, apoptosis and inflammation. CERKL could play a key role in controlling photoreceptor survival/death.
We are currently investigating the effect of the overexpression of the CERKL enzyme on cellular fate in transiently transfected cultured cells, as well as actively searching for its retinal substrate.
Our in vitro and in vivo preliminary results do not support that ceramide/s are the direct substrate for this enzyme. However, overexpression of the protein provides protection against apoptosis caused by oxidative stress, one of the main factors claimed to trigger apoptosis in photoreceptor cells.
Dissecting the function of CERKL will provide new clues on the sphingolipid role on photoreceptors and unveil new targets for therapeutical approaches.
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