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Updated: May 28, 2025

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Determination of Mitochondrial Respiration and Glycolysis in Ex Vivo Retinal Tissue Samples
Published on: August 4, 2021
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The Connection Between Cellular Metabolism and Retinal Disease
Larissa P Govers1, Christian Grimm2
1Department of Ophthalmology, Laboratory for Retinal Cell Biology, University Hospital Zurich, University of Zurich, Schlieren, Switzerland.
Advances in Experimental Medicine and Biology
|February 10, 2025
Summary
Metabolic gene mutations cause inherited retinal diseases. Metabolism also impacts acquired conditions like macular degeneration, offering potential therapeutic targets for vision protection.
Area of Science:
- Ophthalmology
- Metabolic pathways
- Genetics
Background:
- The retina is highly metabolically active, with interconnected cells maintaining homeostasis.
- Disruptions in retinal metabolic balance severely impact vision.
- Both inherited and acquired retinal diseases involve metabolic dysfunction.
Purpose of the Study:
- To identify metabolic genes linked to inherited retinal diseases.
- To explore the role of metabolic pathways in acquired retinal disorders.
- To investigate potential overlaps in metabolic dysfunction for therapeutic insights.
Main Methods:
- Intersecting the RetNet database of inherited retinal disease genes with the Mammalian Metabolic Enzyme Database.
- Analyzing metabolomics data from patients with age-related macular degeneration, diabetic retinopathy, and glaucoma.
Main Results:
- Identified 28 metabolic genes associated with inherited retinal diseases like retinitis pigmentosa and Leber congenital amaurosis.
- Revealed dysregulated lipid, amino acid, and purine metabolism in acquired retinal diseases.
- Highlighted distinct pathophysiological differences but potential metabolic overlaps between inherited and acquired retinal disorders.
Conclusions:
- Metabolic gene mutations are a significant cause of inherited retinal diseases.
- Metabolic pathways are crucial in both inherited and acquired retinal conditions.
- Understanding metabolic dysfunction offers new avenues for developing vision-protective therapies.
Keywords:
Age-related macular degenerationDiabetic retinopathyGlaucomaInherited retinal diseasesLipidsMetabolismMore Related Videos
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