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A Comprehensive Review of Mutations in the MERTK Proto-Oncogene
Célia Parinot1, Emeline F Nandrot2
1Institut de la Vision, INSERM, U968, Sorbonne Universités, UPMC Univ Paris 06, UMR_S968, CNRS, UMR_7210, 17 rue Moreau, 75012, Paris, France.
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.
Insights
Mutations in the MerTK gene cause early-onset rod-cone dystrophy, a severe inherited retinal disease. This review details MerTK mutations and their associated pathologies, including cancer and sclerosis.
Area of Science:
- Ophthalmology
- Genetics
- Cell Biology
Background:
- Retinal pigment epithelial cells clear aged photoreceptor outer segments (POS), essential for vision.
- The MerTK receptor is critical for this phagocytic process.
- MerTK mutations lead to inherited retinal diseases.
Purpose of the Study:
- To review known MERTK mutations.
- To describe pathologies associated with MERTK mutations.
- To highlight the role of MerTK in retinal degeneration and other diseases.
Main Methods:
- Literature review of MERTK mutations and associated diseases.
- Analysis of genetic studies in animal models and human patients.
- Clinical phenotype description of MERTK-associated retinal dystrophy.
Main Results:
- MERTK mutations cause early-onset rod-cone dystrophy, affecting the macula.
- The disease presents atypically compared to classical retinitis pigmentosa.
- MERTK is also implicated in various cancers and sclerosis.
Conclusions:
- MERTK is a crucial gene for retinal health and photoreceptor survival.
- MERTK mutations result in a distinct early-onset retinal dystrophy.
- Understanding MERTK's role is vital for diagnosing and potentially treating these conditions and other diseases.
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