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Lookup NU author(s): Dr Patrick Yu Wai Man
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© The Author 2017. Published by Oxford University Press. All rights reserved. Genetic disorders due to mitochondrial dysfunction are not uncommon and the majority of these patients will have eyerelated manifestations, including visual loss from the optic nerve and retinal disease, visual field loss from retrochiasmal visual pathway damage, and ptosis and ocular dysmotility from extraocular muscle involvement. Defects in both the nuclear and mitochondrial genomes cause mitochondrial dysfunction via several mechanisms, including impaired mitochondrial energy production, oxidative stress, mitochondrial DNA instability, abnormalities in the regulation of mitochondrial dynamics and mitochondrial quality control, and disturbed cellular interorganellar communication. Advances in our understanding of the molecular genetic basis of mitochondrial disease have not only improved genetic diagnosis, but they have provided important insights into the pathophysiologic basis of these disorders and potential therapeutic targets. In parallel, more sophisticated techniques for genetic manipulation are facilitating the development of animal and in vitro models that should prove powerful and versatile tools for disease modelling and therapeutic experimentation. Effective therapies for mitochondrial disorders are beginning to translate from bench to bedside along the paths of neuroprotection, gene replacement and stem cell-based regenerative paradigms. Additionally, preventing the transmission of pathogenic mtDNA mutations from mother to child is now a reality with in vitro fertilization mitochondrial replacement techniques.
Author(s): Yu-Wai-Man P, Newman NJ
Publication type: Review
Publication status: Published
Journal: Human Molecular Genetics
Year: 2017
Volume: 26
Issue: R1
Pages: R12-R20
Print publication date: 01/08/2017
Online publication date: 08/05/2017
Acceptance date: 02/04/2016
ISSN (print): 0964-6906
ISSN (electronic): 1460-2083
Publisher: Oxford University Press
URL: https://doi.org/10.1093/hmg/ddx182
DOI: 10.1093/hmg/ddx182
