Biomarkers for Huntington's Disease

0577184 - ÚŽFG 2024 RIV CH eng M - Monography Chapter
Červenka, Jakub - Budková, Kateřina - Suchá, Rita - Vodička, Petr - Voukali, Eleni
Proteomics in Huntington’s Disease Biomarker Discovery.
Biomarkers for Huntington's Disease. Cham: Springer, 2023 - (Thomas, E.; Parkin, G.), s. 209-247. Contemporary Clinical Neuroscience. ISBN 978-3-031-32814-5
R&D Projects: GA MŠMT(CZ) EF16_019/0000785
Institutional support: RVO:67985904
Keywords : mass spectrometry * Huntington´s disease
OECD category: Biochemistry and molecular biology

Mass spectrometry (MS) and proteomics are continuously evolving methods in systems biology that carry enormous potential for accurately profiling the proteome of diseased tissues and exploring biomarker molecules. In Huntington’s disease (HD), the identification of novel effective biomarkers for monitoring the disease progression from the early asymptomatic stage would be extremely useful for clinical decision-making. Although none of the detected candidate molecules has reached the level of validation, available proteomic studies have provided a list of potential protein biomarkers for future targeted studies using modern workflows in large clinical trials. This review summarises protein data from HD patients and experimental models, reporting biomarker candidates verified by independent methods or identified by multiple independent studies. After examining the overlaps across different tissues and models, several known and novel candidates emerged as consistently affected in HD. Based on MS-based HD studies, we propose the monitoring of existing markers mutant Huntingtin (mHTT) and neurofilament light polypeptide (NfL), together with novel candidate markers, such as proenkephalin-A (PENK), proenkephalin-B (PDYN), glial fibrillary acidic protein (GFAP), and many others.
Permanent Link: https://hdl.handle.net/11104/0346404