May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Functional Characterization of CERKL, a Retinitis Pigmentosa Gene
Author Affiliations & Notes
  • A. Garanto
    Universitat de Barcelona, Barcelona, Spain
    Departament de Genètica,
    IBUB (Institut de Biomedicina),
  • M. Tuson
    Sloan-Kettering Institute, New York, New York
  • R. Gonzàlez-Duarte
    Universitat de Barcelona, Barcelona, Spain
    Departament de Genètica,
    CIBERER. Instituto de Salud Carlos III, Barcelona, Spain
  • G. Marfany
    Universitat de Barcelona, Barcelona, Spain
    Departament de Genètica,
    IBUB (Institut de Biomedicina),
  • Footnotes
    Commercial Relationships  A. Garanto, None; M. Tuson, None; R. Gonzàlez-Duarte, None; G. Marfany, None.
  • Footnotes
    Support  BFU2006-04562, FUNDALUCE (2006), CIBERER-U718
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 4004. doi:
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    • Get Citation

      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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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : 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.

Methods: : 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.

Results: : 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.

Conclusions: : Dissecting the function of CERKL will provide new clues on the sphingolipid role on photoreceptors and unveil new targets for therapeutical approaches.

Keywords: retinal degenerations: cell biology • proteins encoded by disease genes • gene/expression 
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