Volume 53, Issue 2 p. 172-181
RESEARCH ARTICLE

The application of Raman spectroscopy to the diagnosis of mitochondrial muscle disease: A preliminary comparison between fibre optic probe and microscope formats

James J. P. Alix

Corresponding Author

James J. P. Alix

Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK

Neuroscience Institute, University of Sheffield, Sheffield, UK

Correspondence

Dr James J. P. Alix, Sheffield Institute for Translational Neuroscience, University of Sheffield, 385a Glossop Road, Sheffield S10 1HQ, UK.

Email: [email protected]

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Maria Plesia

Maria Plesia

Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK

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Gavin R. Lloyd

Gavin R. Lloyd

Phenome Centre, University of Birmingham, Birmingham, UK

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Alexander P. Dudgeon

Alexander P. Dudgeon

Biophotonics Research Unit, Gloucestershire Hospitals NHS Foundation Trust, Gloucester, UK

Biomedical Spectroscopy, School of Physics and Astronomy, University of Exeter, Exeter, UK

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Catherine A. Kendall

Catherine A. Kendall

Biophotonics Research Unit, Gloucestershire Hospitals NHS Foundation Trust, Gloucester, UK

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Christopher J. McDermott

Christopher J. McDermott

Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK

Neuroscience Institute, University of Sheffield, Sheffield, UK

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Gráinne S. Gorman

Gráinne S. Gorman

Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK

NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

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Robert W. Taylor

Robert W. Taylor

Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK

NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

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Pamela J. Shaw

Pamela J. Shaw

Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK

Neuroscience Institute, University of Sheffield, Sheffield, UK

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John C. Day

John C. Day

Interface Analysis Centre, School of Physics, University of Bristol, Bristol, UK

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First published: 02 November 2021
Citations: 4

Funding information: UK NHS Specialised Commissioners; The Pathological Society; Lily Foundation; Mitochondrial Disease Patient Cohort (UK), Grant/Award Number: G0800674; Medical Research Council (MRC) International Centre for Genomic Medicine in Neuromuscular Disease, Grant/Award Number: MR/S005021/1; Wellcome Centre for Mitochondrial Research, Grant/Award Number: 203105/Z/16/Z; NIHR Sheffield Biomedical Research Centre, Grant/Award Number: IS-BRC-1215-20017; National Institute for Health Research (NIHR), Grant/Award Number: NF-SI-0617-10077; Academy of Medical Sciences, Grant/Award Number: SGL015\1001; Newcastle Mitochondrial Research Biobank, Grant/Award Number: 16NE/0267

Abstract

Muscle biopsy remains an important component of the diagnostic repertoire for patients with suspected mitochondrial disease, underpinning specialist histopathological and biochemical analyses. Raman spectroscopy has not yet been applied to mitochondrial disease, and new fibre optic systems, with advantages in terms of cost and portability, could provide a rapid means to identify muscle pathology. In this study, we aimed to explore the potential of two different formats of Raman spectroscopy to identify mitochondrial disease: a miniaturised fibre optic Raman system and a standard commercial Raman microscope. Raman spectra were recorded from muscle samples from healthy volunteers (n = 10) and patients with genetically confirmed mitochondrial disease (n = 15). Multivariate classification algorithms demonstrated a high level of disease classification performance with both the fibre optic probe system and microscope (area under receiver operating characteristic curves 0.80–0.82). Key spectral changes associated with mitochondrial disease concerned the α-helical configuration of proteins. The results suggest that Raman spectroscopy of muscle is worthy of further investigation as a technique for the rapid identification of mitochondrial disease.

DATA AVAILABILITY STATEMENT

The data that support the findings of this study are available from the corresponding author upon reasonable request.