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Mitochondrial disease in adults: recent advances and future promise

Lookup NU author(s): Dr Yi Ng, Professor Laurence Bindoff, Professor Grainne Gorman, Professor Bobby McFarland, Professor Robert Taylor, Emeritus Professor Doug Turnbull

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Abstract

© 2021 Elsevier LtdMitochondrial diseases are some of the most common inherited neurometabolic disorders, and major progress has been made in our understanding, diagnosis, and treatment of these conditions in the past 5 years. Development of national mitochondrial disease cohorts and international collaborations has changed our knowledge of the spectrum of clinical phenotypes and natural history of mitochondrial diseases. Advances in high-throughput sequencing technologies have altered the diagnostic algorithm for mitochondrial diseases by increasingly using a genetics-first approach, with more than 350 disease-causing genes identified to date. While the current management strategy for mitochondrial disease focuses on surveillance for multisystem involvement and effective symptomatic treatment, new endeavours are underway to find better treatments, including repurposing current drugs, use of novel small molecules, and gene therapies. Developments made in reproductive technology offer women the opportunity to prevent transmission of DNA-related mitochondrial disease to their children.


Publication metadata

Author(s): Ng YS, Bindoff LA, Gorman GS, Klopstock T, Kornblum C, Mancuso M, McFarland R, Sue CM, Suomalainen A, Taylor RW, Thorburn DR, Turnbull DM

Publication type: Review

Publication status: Published

Journal: The Lancet Neurology

Year: 2021

Volume: 20

Issue: 7

Pages: 573-584

Print publication date: 01/07/2021

Acceptance date: 02/04/2018

ISSN (print): 1474-4422

ISSN (electronic): 1474-4465

Publisher: Lancet Publishing Group

URL: https://doi.org/10.1016/S1474-4422(21)00098-3

DOI: 10.1016/S1474-4422(21)00098-3


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