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Monitoring clinical progression with mitochondrial disease biomarkers

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.

Publication metadata

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


DOI: 10.1093/brain/awx168

PubMed id: 28969370


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Funder referenceFunder name
GlaxoSmithKline provides support for H.E.S. as part of their Early Talent Review Board (ETRB) Clinical Fellow program.
P.F.C. - Wellcome Trust Centre for Mitochondrial Research (096919Z/11/Z)
P.F.C. is a UK NIHR Senior Investigator, who receives support from the Medical Research Council Mitochondrial Biology Unit (MC_UP_1501/2)
P.F.C. is a Wellcome Trust Senior Fellow in Clinical Science (101876/Z/13/Z)
R.H. - the European Research Council (309548), the Wellcome Trust Pathfinder Scheme (201064/Z/16/Z) and the Newton Fund (UK/Turkey, MR/N027302/1).
R.H. is a Wellcome Trust Investigator (109915/Z/15/Z), who receives support from the Medical Research Council (UK) (MR/N025431/1),