A connectomics approach to understanding a retinal disease

CL Zucker, PS Bernstein, RL Schalek… - Proceedings of the …, 2020 - National Acad Sciences
CL Zucker, PS Bernstein, RL Schalek, JW Lichtman, JE Dowling
Proceedings of the National Academy of Sciences, 2020National Acad Sciences
Macular telangiectasia type 2 (MacTel), a late-onset macular degeneration, has been linked
to a loss in the retina of Müller glial cells and the amino acid serine, synthesized by the
Müller cells. The disease is confined mainly to a central retinal region called the MacTel
zone. We have used electron microscopic connectomics techniques, optimized for disease
analysis, to study the retina from a 48-y-old woman suffering from MacTel. The major
observations made were specific changes in mitochondrial structure within and outside the …
Macular telangiectasia type 2 (MacTel), a late-onset macular degeneration, has been linked to a loss in the retina of Müller glial cells and the amino acid serine, synthesized by the Müller cells. The disease is confined mainly to a central retinal region called the MacTel zone. We have used electron microscopic connectomics techniques, optimized for disease analysis, to study the retina from a 48-y-old woman suffering from MacTel. The major observations made were specific changes in mitochondrial structure within and outside the MacTel zone that were present in all retinal cell types. We also identified an abrupt boundary of the MacTel zone that coincides with the loss of Müller cells and macular pigment. Since Müller cells synthesize retinal serine, we propose that a deficiency of serine, required for mitochondrial maintenance, causes mitochondrial changes that underlie MacTel development.
National Acad Sciences