The Role of Mitochondria in Optic Atrophy With Autosomal Inheritance

Optic atrophy (OA) with autosomal inheritance is a form of optic neuropathy characterized by the progressive and irreversible loss of vision. In some cases, this is accompanied by additional, typically neurological, extra-ocular symptoms. Underlying the loss of vision is the specific degeneration of...

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Autores principales:	Elin L. Strachan, Delphi Mac White-Begg, John Crean, Alison L. Reynolds, Breandán N. Kennedy, Niamh C. O’Sullivan
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	mitochondria retinal ganglion cells (RGC) optic atrophy in vivo models retinal organoids Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
Acceso en línea:	https://doaj.org/article/62a7a2f1465a45b2b8fba7939ca5df29
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spelling	oai:doaj.org-article:62a7a2f1465a45b2b8fba7939ca5df292021-11-15T06:59:53ZThe Role of Mitochondria in Optic Atrophy With Autosomal Inheritance1662-453X10.3389/fnins.2021.784987https://doaj.org/article/62a7a2f1465a45b2b8fba7939ca5df292021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fnins.2021.784987/fullhttps://doaj.org/toc/1662-453XOptic atrophy (OA) with autosomal inheritance is a form of optic neuropathy characterized by the progressive and irreversible loss of vision. In some cases, this is accompanied by additional, typically neurological, extra-ocular symptoms. Underlying the loss of vision is the specific degeneration of the retinal ganglion cells (RGCs) which form the optic nerve. Whilst autosomal OA is genetically heterogenous, all currently identified causative genes appear to be associated with mitochondrial organization and function. However, it is unclear why RGCs are particularly vulnerable to mitochondrial aberration. Despite the relatively high prevalence of this disorder, there are currently no approved treatments. Combined with the lack of knowledge concerning the mechanisms through which aberrant mitochondrial function leads to RGC death, there remains a clear need for further research to identify the underlying mechanisms and develop treatments for this condition. This review summarizes the genes known to be causative of autosomal OA and the mitochondrial dysfunction caused by pathogenic mutations. Furthermore, we discuss the suitability of available in vivo models for autosomal OA with regards to both treatment development and furthering the understanding of autosomal OA pathology.Elin L. StrachanElin L. StrachanDelphi Mac White-BeggDelphi Mac White-BeggJohn CreanJohn CreanJohn CreanAlison L. ReynoldsAlison L. ReynoldsBreandán N. KennedyBreandán N. KennedyNiamh C. O’SullivanNiamh C. O’SullivanFrontiers Media S.A.articlemitochondriaretinal ganglion cells (RGC)optic atrophyin vivo modelsretinal organoidsNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571ENFrontiers in Neuroscience, Vol 15 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	mitochondria retinal ganglion cells (RGC) optic atrophy in vivo models retinal organoids Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
spellingShingle	mitochondria retinal ganglion cells (RGC) optic atrophy in vivo models retinal organoids Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Elin L. Strachan Elin L. Strachan Delphi Mac White-Begg Delphi Mac White-Begg John Crean John Crean John Crean Alison L. Reynolds Alison L. Reynolds Breandán N. Kennedy Breandán N. Kennedy Niamh C. O’Sullivan Niamh C. O’Sullivan The Role of Mitochondria in Optic Atrophy With Autosomal Inheritance
description	Optic atrophy (OA) with autosomal inheritance is a form of optic neuropathy characterized by the progressive and irreversible loss of vision. In some cases, this is accompanied by additional, typically neurological, extra-ocular symptoms. Underlying the loss of vision is the specific degeneration of the retinal ganglion cells (RGCs) which form the optic nerve. Whilst autosomal OA is genetically heterogenous, all currently identified causative genes appear to be associated with mitochondrial organization and function. However, it is unclear why RGCs are particularly vulnerable to mitochondrial aberration. Despite the relatively high prevalence of this disorder, there are currently no approved treatments. Combined with the lack of knowledge concerning the mechanisms through which aberrant mitochondrial function leads to RGC death, there remains a clear need for further research to identify the underlying mechanisms and develop treatments for this condition. This review summarizes the genes known to be causative of autosomal OA and the mitochondrial dysfunction caused by pathogenic mutations. Furthermore, we discuss the suitability of available in vivo models for autosomal OA with regards to both treatment development and furthering the understanding of autosomal OA pathology.
format	article
author	Elin L. Strachan Elin L. Strachan Delphi Mac White-Begg Delphi Mac White-Begg John Crean John Crean John Crean Alison L. Reynolds Alison L. Reynolds Breandán N. Kennedy Breandán N. Kennedy Niamh C. O’Sullivan Niamh C. O’Sullivan
author_facet	Elin L. Strachan Elin L. Strachan Delphi Mac White-Begg Delphi Mac White-Begg John Crean John Crean John Crean Alison L. Reynolds Alison L. Reynolds Breandán N. Kennedy Breandán N. Kennedy Niamh C. O’Sullivan Niamh C. O’Sullivan
author_sort	Elin L. Strachan
title	The Role of Mitochondria in Optic Atrophy With Autosomal Inheritance
title_short	The Role of Mitochondria in Optic Atrophy With Autosomal Inheritance
title_full	The Role of Mitochondria in Optic Atrophy With Autosomal Inheritance
title_fullStr	The Role of Mitochondria in Optic Atrophy With Autosomal Inheritance
title_full_unstemmed	The Role of Mitochondria in Optic Atrophy With Autosomal Inheritance
title_sort	role of mitochondria in optic atrophy with autosomal inheritance
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/62a7a2f1465a45b2b8fba7939ca5df29
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The Role of Mitochondria in Optic Atrophy With Autosomal Inheritance

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