Next Article in Journal
Iron Supplementation Therapy, A Friend and Foe of Mycobacterial Infections?
Next Article in Special Issue
Cardiolipin-Based Lipopolyplex Platform for the Delivery of Diverse Nucleic Acids into Gram-Negative Bacteria
Previous Article in Journal
26th Annual GP2A Medicinal Chemistry Conference & 32nd Journées Franco-Belges de Pharmacochimie
Article Menu

Export Article

Open AccessArticle

Retinal Gene Distribution and Functionality Implicated in Inherited Retinal Degenerations Can Reveal Disease-Relevant Pathways for Pharmacologic Intervention

1
USC Roski Eye Institute, Department of Ophthalmology, Keck School of Medicine of the University of Southern California, Los Angeles, CA 90033, USA
2
Department of Ophthalmology, Translational Vision Research Center, Gavin Herbert Eye Institute, University of California, Irvine, CA 92697, USA
*
Author to whom correspondence should be addressed.
Pharmaceuticals 2019, 12(2), 74; https://doi.org/10.3390/ph12020074
Received: 16 April 2019 / Revised: 8 May 2019 / Accepted: 15 May 2019 / Published: 17 May 2019
(This article belongs to the Special Issue New Tools for Medicinal Chemists)
  |  
PDF [945 KB, uploaded 17 May 2019]
  |  

Abstract

The advent of genetic therapies for inherited retinal diseases (IRDs) has spurred the need for precise diagnosis and understanding of pathways for therapeutic targeting. The majority of IRDs that are clinically diagnosed, however, lack an identifiable mutation in established disease-causing loci and thus can be investigated with limited rational drug discovery methods. Transcriptome profiling of the retina can reveal the functional state of the tissue, and geographic profiling can uncover the various clinical phenotypic presentations of IRDs and aid in pharmaceutical intervention. In this investigation, we detail the retinal geographic expression of known retinal disease-causing genes in the primate retina and functional targetable pathways in specific IRDs. Understanding the genetic basis as well as the resulting functional consequences will assist in the discovery of future therapeutic interventions and provide novel insights to medicinal chemists. Herein, we report that, despite the genetic heterogeneity of retinal diseases, potential functional pathways can be elucidated for therapeutic targeting and be used for predictive phenotypic and genotypic modeling of novel IRD presentations. View Full-Text
Keywords: retina; retinal gene distribution; retinal gene functionality; inherited retinal degenerations; RNA-Seq; geographic expression; systems pharmacology; drug discovery retina; retinal gene distribution; retinal gene functionality; inherited retinal degenerations; RNA-Seq; geographic expression; systems pharmacology; drug discovery
Figures

Figure 1

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).
SciFeed

Share & Cite This Article

MDPI and ACS Style

Mustafi, D.; Arbabi, A.; Ameri, H.; Palczewski, K. Retinal Gene Distribution and Functionality Implicated in Inherited Retinal Degenerations Can Reveal Disease-Relevant Pathways for Pharmacologic Intervention. Pharmaceuticals 2019, 12, 74.

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Related Articles

Article Metrics

Article Access Statistics

1

Comments

[Return to top]
Pharmaceuticals EISSN 1424-8247 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top