A perspective on the role of the extracellular matrix in progressive retinal degenerative disorders

Investigative Ophthalmology & Visual Science
Muayyad R Al-UbaidiShannon M Conley

Abstract

Progressive inherited retinal degenerative disorders (PIRDDs) are the leading cause of blindness in developed countries, with AMD and RP constituting the majority of PIRDDs. Currently, over 8 million Americans have PIRDDs, and that number is estimated to drastically increase by the end of this decade. Although a mutant protein is expressed starting early during retinal development in patients with PIRDDs, symptoms of retinal degeneration do not manifest until much later. Historically, research has focused on understanding the role a mutation has in the function of a protein and what role the mutant protein has in the disease process. However, it remains unknown why the disease, irrespective of the mutation, manifests clinically much later in life, while cellular indicators of disease (e.g., accumulation of toxic protein products and cell death) occur throughout early and middle life. Herein, we propose that there exists a time point at which the degenerative process is accelerated, leading to the appearance of clinical symptoms. This point is defined by structural disruptions of the extracellular matrix (ECM). Death of a critical number of ECM-maintaining mutant protein-expressing retinal cells contributes to that break point i...Continue Reading

Citations

Mar 31, 2015·Experimental Eye Research·Makoto IshikawaTakeshi Yoshitomi
Mar 25, 2015·Journal of Ophthalmology·Makoto IshikawaTakeshi Yoshitomi
Nov 27, 2019·Cytometry. Part a : the Journal of the International Society for Analytical Cytology·Kristin AllanAlex Yuan
Oct 30, 2020·Journal of Medical Engineering & Technology·Anthony E FelderPeter Pfanner
Apr 4, 2021·Cells·Andrew E PouwElliott H Sohn
Aug 19, 2021·Npj Aging and Mechanisms of Disease·Sophie VanhunselLieve Moons

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