Single-Cell RNA Sequencing in Human Retinal Degeneration Reveals Distinct Glial Cell Populations

Andrew P Voigt; Elaine Binkley; Miles J Flamme-Wiese; Shemin Zeng; Adam P DeLuca; Todd E Scheetz; Budd A Tucker; Robert F Mullins; Edwin M Stone

doi:10.3390/cells9020438

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Single-Cell RNA Sequencing in Human Retinal Degeneration Reveals Distinct Glial Cell Populations

Journal article

Open access

Peer reviewed

Single-Cell RNA Sequencing in Human Retinal Degeneration Reveals Distinct Glial Cell Populations

Andrew P Voigt, Elaine Binkley, Miles J Flamme-Wiese, Shemin Zeng, Adam P DeLuca, Todd E Scheetz, Budd A Tucker, Robert F Mullins and Edwin M Stone

Cells (Basel, Switzerland), Vol.9(2), p.438

02/13/2020

DOI: 10.3390/cells9020438

PMCID: PMC7072666

PMID: 32069977

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https://doi.org/10.3390/cells9020438View

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Abstract

Degenerative diseases affecting retinal photoreceptor cells have numerous etiologies and clinical presentations. We clinically and molecularly studied the retina of a 70-year-old patient with retinal degeneration attributed to autoimmune retinopathy. The patient was followed for 19 years for progressive peripheral visual field loss and pigmentary changes. Single-cell RNA sequencing was performed on foveal and peripheral retina from this patient and four control patients, and cell-specific gene expression differences were identified between healthy and degenerating retina. Distinct populations of glial cells, including astrocytes and Müller cells, were identified in the tissue from the retinal degeneration patient. The glial cell populations demonstrated an expression profile consistent with reactive gliosis. This report provides evidence that glial cells have a distinct transcriptome in the setting of human retinal degeneration and represents a complementary clinical and molecular investigation of a case of progressive retinal disease.

Sequence Analysis, RNA - methods

Male

Neuroglia - metabolism

Aged

Retinal Degeneration - genetics

Humans

Details

Title: Subtitle: Single-Cell RNA Sequencing in Human Retinal Degeneration Reveals Distinct Glial Cell Populations
Creators: Andrew P Voigt - Institute for Vision Research, the University of Iowa, Iowa City, IA 52242, USA
Elaine Binkley - Institute for Vision Research, the University of Iowa, Iowa City, IA 52242, USA
Miles J Flamme-Wiese - Institute for Vision Research, the University of Iowa, Iowa City, IA 52242, USA
Shemin Zeng - Institute for Vision Research, the University of Iowa, Iowa City, IA 52242, USA
Adam P DeLuca - Institute for Vision Research, the University of Iowa, Iowa City, IA 52242, USA
Todd E Scheetz - Institute for Vision Research, the University of Iowa, Iowa City, IA 52242, USA
Budd A Tucker - Institute for Vision Research, the University of Iowa, Iowa City, IA 52242, USA
Robert F Mullins - Institute for Vision Research, the University of Iowa, Iowa City, IA 52242, USA
Edwin M Stone - Institute for Vision Research, the University of Iowa, Iowa City, IA 52242, USA
Resource Type: Journal article
Publication Details: Cells (Basel, Switzerland), Vol.9(2), p.438
DOI: 10.3390/cells9020438
PMID: 32069977
PMCID: PMC7072666
NLM abbreviation: Cells
ISSN: 2073-4409
eISSN: 2073-4409
Publisher: Switzerland
Grant note: T32 GM007337 / NIGMS NIH HHS P30 EY025580 / NEI NIH HHS R21 EY027038 / NEI NIH HHS
Language: English
Date published: 02/13/2020
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Electrical and Computer Engineering; The University of Iowa Institute for Vision Research; Iowa Neuroscience Institute; John and Marcia Carver Nonprofit Genetic Testing Laboratory; Center for Bioinformatics and Computational Biology; Internal Medicine; Ophthalmology and Visual Sciences
Record Identifier: 9984070761802771

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