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

Serum Raman spectroscopy as a diagnostic tool in patients with Huntington's disease
Serum Raman spectroscopy as a diagnostic tool in patients with Huntington's disease
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.
1478-6524
525-533
Huefner, Anna
2f24ff96-fe77-40a7-a06e-7813bbd10c86
Kuan, Wei-Li
f32d8025-2376-4408-a285-3f3d9fc11bdc
Mason, Sarah L.
9f9499f2-0d25-4171-92d9-0fbc69178a77
Mahajan, Sumeet
b131f40a-479e-4432-b662-19d60d4069e9
Barker, Roger A.
64e07f34-66db-42a7-9a28-2cb3070f63ad
Huefner, Anna
2f24ff96-fe77-40a7-a06e-7813bbd10c86
Kuan, Wei-Li
f32d8025-2376-4408-a285-3f3d9fc11bdc
Mason, Sarah L.
9f9499f2-0d25-4171-92d9-0fbc69178a77
Mahajan, Sumeet
b131f40a-479e-4432-b662-19d60d4069e9
Barker, Roger A.
64e07f34-66db-42a7-9a28-2cb3070f63ad

Huefner, Anna, Kuan, Wei-Li, Mason, Sarah L., Mahajan, Sumeet and Barker, Roger A. (2020) Serum Raman spectroscopy as a diagnostic tool in patients with Huntington's disease. Chemical Science, 11 (2), 525-533. (doi:10.1039/C9SC03711J).

Record type: Article

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.

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Accepted/In Press date: 14 November 2019
e-pub ahead of print date: 14 November 2019
Published date: 14 January 2020

Identifiers

Local EPrints ID: 436396
URI: http://eprints.soton.ac.uk/id/eprint/436396
ISSN: 1478-6524
PURE UUID: b546b543-97d6-41cf-81a5-c9423e71b662
ORCID for Sumeet Mahajan: ORCID iD orcid.org/0000-0001-8923-6666

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Date deposited: 10 Dec 2019 17:30
Last modified: 26 Nov 2021 07:14

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Contributors

Author: Anna Huefner
Author: Wei-Li Kuan
Author: Sarah L. Mason
Author: Sumeet Mahajan ORCID iD
Author: Roger A. Barker

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