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Lookup NU author(s): Dr Kyle Thompson, Professor Robert Taylor
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© 2023 Elsevier B.V.A multidisciplinary approach to the laboratory diagnosis of mitochondrial disease has long been applied, with crucial information provided by deep clinical phenotyping, blood investigations, and biomarker screening as well as histopathological and biochemical testing of biopsy material to support molecular genetic screening. In an era of second and third generation sequencing technologies, traditional diagnostic algorithms for mitochondrial disease have been replaced by gene agnostic, genomic strategies including whole-exome sequencing (WES) and whole-genome sequencing (WGS), increasingly supported by other ‘omics technologies (Alston et al., 2021). Whether a primary testing strategy, or one used to validate and interpret candidate genetic variants, the availability of a range of tests aimed at determining mitochondrial function (i.e., the assessment of individual respiratory chain enzyme activities in a tissue biopsy or cellular respiration in a patient cell line) remains an important part of the diagnostic armory. In this chapter, we summarize several disciplines used in the laboratory investigation of suspected mitochondrial disease, including the histopathological and biochemical assessment of mitochondrial function, as well as protein-based techniques to assess the steady-state levels of oxidative phosphorylation (OXPHOS) subunits and assembly of OXPHOS complexes via traditional (immunoblotting) and cutting-edge (quantitative proteomic) approaches.
Author(s): Thompson K, Stroud DA, Thorburn DR, Taylor RW
Editor(s): Horvath R; Hirano M; Chinnery PF
Publication type: Book Chapter
Publication status: Published
Book Title: Mitochondrial Diseases
Year: 2023
Volume: 194
Pages: 127-139
Print publication date: 16/06/2023
Online publication date: 20/02/2023
Acceptance date: 02/04/2022
Series Title: Handbook of Clinical Neurology
Publisher: Elsevier B.V.
Place Published: Amsterdam
URL: https://doi.org/10.1016/B978-0-12-821751-1.00008-7
DOI: 10.1016/B978-0-12-821751-1.00008-7
PubMed id: 36813309
Notes: Chapter 9
Library holdings: Search Newcastle University Library for this item
ISBN: 9780128217511
