Medical Research Council - London Institute of Medical Sciences

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Seeing Reasons

Role for mitochondrial metabolism identified in advanced form of the blindness-inducing age-related macular degeneration

03 September 2022

Seeing Reasons

A leading cause of blindness, age-related macular degeneration (AMD) is caused by damage to the macula, the central area of the retina, the light-sensitive layer in our eyes. Geographic atrophy is an advanced and currently incurable form of AMD, characterised by patches of dead retinal cells. Problems start in the retinal pigment epithelium (RPE, pictured), a layer of cells between the retina and blood vessels, where excess inflammation can ultimately trigger cell death in the retina. To uncover the genetic factors underlying this condition, researchers recently took fibroblasts, connective tissue cells, from the skin of both patients with geographic atrophy and healthy individuals, and reprogrammed them in the laboratory, to first give rise to pluripotent stem cells, then cells of the RPE. From these, they identified unique genetic traits associated with geographic atrophy; several were related to metabolism in the mitochondria, energy-producing organelles, suggesting they could play an important role.

Written by Emmanuelle Briolat

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