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From Transcriptomics to Treatment in Inherited Optic Neuropathies

Gilhooley, MJ; Owen, N; Moosajee, M; Man, PYW; (2021) From Transcriptomics to Treatment in Inherited Optic Neuropathies. Genes , 12 (2) , Article 147. 10.3390/genes12020147. Green open access

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Abstract

Inherited optic neuropathies, including Leber Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA), are monogenetic diseases with a final common pathway of mitochondrial dysfunction leading to retinal ganglion cell (RGC) death and ultimately loss of vision. They are, therefore, excellent models with which to investigate this ubiquitous disease process—implicated in both common polygenetic ocular diseases (e.g., Glaucoma) and late-onset central nervous system neurodegenerative diseases (e.g., Parkinson disease). In recent years, cellular and animal models of LHON and DOA have matured in parallel with techniques (such as RNA-seq) to determine and analyze the transcriptomes of affected cells. This confluence leaves us at a particularly exciting time with the potential for the identification of novel pathogenic players and therapeutic targets. Here, we present a discussion of the importance of inherited optic neuropathies and how transcriptomic techniques can be exploited in the development of novel mutation-independent, neuroprotective therapies.

Type: Article
Title: From Transcriptomics to Treatment in Inherited Optic Neuropathies
Location: Switzerland
Open access status: An open access version is available from UCL Discovery
DOI: 10.3390/genes12020147
Publisher version: https://doi.org/10.3390/genes12020147
Language: English
Additional information: This is an open access article distributed under the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Keywords: DOA, LHON, OPA1, RNA-seq, gene-therapy, mitochondrial, neuroprotection, optic neuropathies, transcriptomics
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10120498
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