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Serum Raman spectroscopy as a diagnostic tool in patients with Huntington's disease

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Abstract

Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by an abnormal CAG expansion in exon 1 of the huntingtin (HTT) gene. Given its genetic basis it is possible to study patients both in the pre-manifest and manifest stages of the condition. While disease onset can be modelled using CAG repeat size, there are no easily accessible biomarkers that can objectively track disease progression. Here, we employed a holistic approach using spectral profiles generated using both surface-enhanced Raman spectroscopy (SERS) and Raman Spectroscopy (RS), on the serum of healthy participants and HD patients covering a wide spectrum of disease stages. We found that there was both genotype- and gender-specific segregation on using the full range in the fingerprint region with both SERS and RS. On a more detailed interrogation using specific spectral intervals, SERS revealed significant correlations with disease progression, in particular progression from pre-manifest through to advanced HD was associated with serum molecules related to protein misfolding and nucleotide catabolism. Thus, this study shows the potential of Raman spectroscopy-based techniques for stratification of patients and, of SERS, in particular, to track disease status through provision of ‘spectral’ biomarkers in HD, with clinical applications for other diseases and trials looking at disease modifying therapies.

Graphical abstract: Serum Raman spectroscopy as a diagnostic tool in patients with Huntington's disease

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Publication details

The article was received on 27 Jul 2019, accepted on 14 Nov 2019 and first published on 14 Nov 2019


Article type: Edge Article
DOI: 10.1039/C9SC03711J
Chem. Sci., 2020, Advance Article
  • Open access: Creative Commons BY-NC license
    All publication charges for this article have been paid for by the Royal Society of Chemistry

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    Serum Raman spectroscopy as a diagnostic tool in patients with Huntington's disease

    A. Huefner, W. Kuan, S. L. Mason, S. Mahajan and R. A. Barker, Chem. Sci., 2020, Advance Article , DOI: 10.1039/C9SC03711J

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