Medical Research Council - London Institute of Medical Sciences

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Insights In Sight

Gene variants identified that are associated with eye disease macular telangiectasia

03 October 2019

Insights In Sight

Macular telangiectasia type 2 (MacTel) is a rare eye disease, typically affecting people over the age of 40, that causes a gradual loss of central vision. Until recently, the underlying cause of MacTel wasn’t known, but now researchers have found the first genes linked to the disease and with that the first insights into its pathology. The genes SPTLC1 and SPTLC2 regulate metabolism of a special class of fats called sphingolipids. And, mutations in the genes cause a build-up of toxic deoxysphingolipids that destroy cells of the retina. Indeed, the green stained cells in the retinal organoid pictured are dying as a result of deoxysphingolipid exposure. Interestingly MacTel patients without SPTLC mutations also appear to have elevated deoxysphingolipid levels, suggesting these molecules are damaging to the eyes regardless of genetic cause. With this greater understanding of MacTel pathology there will be novel opportunities for developing sight-saving interventions.

Written by Ruth Williams

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