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Limbal Approach-Subretinal Injection of Viral Vectors for Gene Therapy in Mice Retinal Pigment Epithelium
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Gene Therapy for MERTK-Associated Retinal Degenerations

Matthew M LaVail1, Douglas Yasumura1, Michael T Matthes2

  • 1Beckman Vision Center, UCSF School of Medicine, 10 Koret Way, 94143-0730, San Francisco, CA, USA. matthew.lavail@ucsf.edu.

Advances in Experimental Medicine and Biology
|October 3, 2015
PubMed

Insights

Gene therapy using AAV2-VMD2-hMERTK successfully rescued photoreceptors in MERTK-associated retinal degeneration models. This approach restored RPE phagocytosis and improved vision, suggesting promise for clinical trials.

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • MERTK-associated retinal degenerations involve impaired phagocytosis of photoreceptor outer segments by the retinal pigment epithelium (RPE).
  • Rodent models exhibit similar phagocytic defects, making them valuable for studying these conditions.

Purpose of the Study:

  • To evaluate the efficacy of subretinal injection of an RPE-specific adeno-associated virus serotype 2 (AAV2) vector, AAV2-VMD2-hMERTK, for long-term photoreceptor rescue.
  • To assess the vector's impact on RPE phagocytosis and visual function in disease models.

Main Methods:

  • Subretinal injection of AAV2-VMD2-hMERTK in RCS rats and Mertk-null mice.
  • Assessment of photoreceptor survival and RPE phagocytosis.
  • Measurement of electroretinogram (ERG) response amplitudes.

Main Results:

  • Long-term photoreceptor rescue (up to 6.5 months) was observed in RCS rats following vector injection.
  • Evidence of phagosomes in RPE cells in rescued regions of RCS retinas.
  • Significant protective effects and increased ERG amplitudes in vector-injected eyes of Mertk-null mice.

Conclusions:

  • The AAV2-VMD2-hMERTK vector effectively rescues photoreceptors and restores RPE phagocytosis in models of MERTK-associated retinal degeneration.
  • These preclinical findings support the potential for favorable outcomes in upcoming clinical trials.
Keywords:
Gene therapyMERTKPhagocytosisRetinal degenerationTreatment

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