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Retinal Degenerative Diseases pp 259–265Cite as

A Comprehensive Review of Mutations in the MERTK Proto-Oncogene

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Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 854))

Abstract

Phagocytosis and elimination of shed aged photoreceptor outer segments (POS) by retinal pigment epithelial cells is crucial for photoreceptor function and survival. Genetic studies on a natural animal model of recessive retinal degeneration allowed the identification of MerTK, the gene encoding the surface receptor required for POS internalization. Following this discovery, screenings of DNA samples from patients have revealed that MERTK mutations cause retinal degenerations in humans. MERTK patients present some of the classical symptoms of retinitis pigmentosa, but it is atypical in that the disease develops very early during childhood and the macula is also involved early on. Therefore, the phenotype ought to be qualified as a rod-cone dystrophy. Recently, MERTK has been implicated in various types of cancers and sclerosis. This review identifies the different MERTK mutations known so far and describes associated pathologies.

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Authors and Affiliations

  1. Institut de la Vision, INSERM, U968, Sorbonne Universités, UPMC Univ Paris 06, UMR_S968, CNRS, UMR_7210, 17 rue Moreau, 75012, Paris, France

    Célia Parinot & Emeline F. Nandrot

Authors
  1. Célia Parinot
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  2. Emeline F. Nandrot
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Corresponding author

Correspondence to Emeline F. Nandrot .

Editor information

Editors and Affiliations

  1. Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA

    Catherine Bowes Rickman

  2. Beckman Vision Center, University of California, San Francisco School of Medicine, San Francisco, California, USA

    Matthew M. LaVail

  3. Dean A. McGee Eye Inst., University of Oklahoma Health Science Center, Oklahoma City, Oklahoma, USA

    Robert E. Anderson

  4. University Hospital Zurich, Zurich, Switzerland

    Christian Grimm

  5. Case Western Reserve University Cleveland Clinic Lerner College of Med, Cleveland, Ohio, USA

    Joe Hollyfield

  6. Univ of Florida Dept of Ophthalmology/Arb R112, Gainesville, Florida, USA

    John Ash

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© 2016 Springer International Publishing Switzerland

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Parinot, C., Nandrot, E. (2016). A Comprehensive Review of Mutations in the MERTK Proto-Oncogene. In: Bowes Rickman, C., LaVail, M., Anderson, R., Grimm, C., Hollyfield, J., Ash, J. (eds) Retinal Degenerative Diseases. Advances in Experimental Medicine and Biology, vol 854. Springer, Cham. https://doi.org/10.1007/978-3-319-17121-0_35

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