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

Lookup NU author(s): Professor Grainne Gorman, Professor Robert Taylor


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© 2021 John Wiley & Sons, Ltd.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.

Publication metadata

Author(s): Alix JJP, Plesia M, Lloyd GR, Dudgeon AP, Kendall CA, McDermott CJ, Gorman GS, Taylor RW, Shaw PJ, Day JC

Publication type: Article

Publication status: Published

Journal: Journal of Raman Spectroscopy

Year: 2022

Volume: 53

Issue: 2

Pages: 172-181

Print publication date: 01/02/2022

Online publication date: 02/11/2021

Acceptance date: 15/10/2021

ISSN (print): 0377-0486

ISSN (electronic): 1097-4555

Publisher: John Wiley and Sons Ltd


DOI: 10.1002/jrs.6273


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