Browse by author
Lookup NU author(s): Dr Hannah Steele, Professor Rita HorvathORCiD, Professor Patrick Chinnery
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© The Author (2017). Mitochondrial disorders are genetically determined metabolic diseases due to a biochemical deficiency of the respiratory chain. Given that multi-system involvement and disease progression are common features of mitochondrial disorders they carry substantial morbidity and mortality. Despite this, no disease-modifying treatments exist with clear clinical benefits, and the current best management of mitochondrial disease is supportive. Several therapeutic strategies for mitochondrial disorders are now at a mature preclinical stage. Some are making the transition into early-phase patient trials, but the lack of validated biomarkers of disease progression presents a challenge when developing new therapies for patients. This update discusses current biomarkers of mitochondrial disease progression including metabolomics, circulating serum markers, exercise physiology, and both structural and functional imaging. We discuss the advantages and disadvantages of each approach, and consider emerging techniques with a potential role in trials of new therapies.
Author(s): Steele HE, Horvath R, Lyon JJ, Chinnery PF
Publication type: Article
Publication status: Published
Journal: Brain
Year: 2017
Volume: 140
Issue: 10
Pages: 2530-2540
Print publication date: 01/10/2017
Online publication date: 03/08/2017
Acceptance date: 14/05/2017
Date deposited: 01/11/2017
ISSN (print): 0006-8950
ISSN (electronic): 1460-2156
Publisher: Oxford University Press
URL: https://doi.org/10.1093/brain/awx168
DOI: 10.1093/brain/awx168
PubMed id: 28969370
Altmetrics provided by Altmetric
