Iwan, K;
Clayton, R;
Mills, P;
Csanyi, B;
Gissen, P;
Mole, SE;
Palmer, DN;
... Heywood, WE; + view all
(2021)
Urine Proteomics Analysis of Patients with Neuronal Ceroid Lipofuscinoses.
iScience
, 4
(2)
, Article 102020. 10.1016/j.isci.2020.102020.
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Abstract
The Neuronal Ceroid Lipofuscinoses (NCL) are a group of 13 rare neurodegenerative disorders characterised by accumulation of cellular storage bodies. There are few therapeutic options and existing tests do not monitor disease progression and treatment response. However, urine biomarkers could address this need. Proteomic analysis of CLN2 patient urine revealed activation of immune response pathways and pathways associated with the unfolded protein response. Analysis of CLN5 and CLN6 sheep model urine showed subtle changes. To confirm and investigate the relevance of candidate biomarkers a targeted LC-MS/MS proteomic assay was created. We applied this assay to additional CLN2 samples as well as other NCL patients, (CLN1, CLN3, CLN5, CLN6 and CLN7) and demonstrated that Hexosaminidase-A, Aspartate Aminotransferase-1 and LAMP1, are increased in NCL samples and betaine-homocysteine S-methyltransferase-1 was specifically increased in CLN2 patients. These proteins could be used to monitor effectiveness of future therapies aimed at treating systemic NCL disease.
| Type: | Article |
|---|---|
| Title: | Urine Proteomics Analysis of Patients with Neuronal Ceroid Lipofuscinoses |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.isci.2020.102020 |
| Publisher version: | https://doi.org/10.1016/j.isci.2020.102020 |
| Language: | English |
| Additional information: | © 2020 The Authors. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10118711 |
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