2026-07-21T14:57:28Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/112242025-06-13T09:28:34Zcom_20.500.12105_15322com_20.500.12105_2051com_20.500.12105_2052col_20.500.12105_16961col_20.500.12105_16962col_20.500.12105_19617
Repisalud
author
Zerr, Inga
author
Villar-Piqué, Anna
author
Schmitz, Vanda Edit
author
Poleggi, Anna
author
Pocchiari, Maurizio
author
Sánchez-Valle, Raquel
author
Calero, Miguel
author
Calero, Olga
author
Baldeiras, Inês
author
Santana, Isabel
author
Kovacs, Gabor G
author
Llorens, Franc
author
Schmitz, Matthias
funder
Instituto de Salud Carlos III
2020-10-27T18:49:38Z
2020-10-27T18:49:38Z
2019
Biomolecules . 2019 Nov 28;9(12):800
10.3390/biom9120800
2218-273X
Biomolecules
31795176
http://hdl.handle.net/20.500.12105/11224
The exploration of accurate diagnostic markers for differential diagnosis of neurodegenerative diseases is an ongoing topic. A previous study on cerebrospinal fluid (CSF)-mitochondrial malate dehydrogenase 1 (MDH1) in sporadic Creutzfeldt-Jakob disease (sCJD) patients revealed a highly significant upregulation of MDH1. Here, we measured the CSF levels of MDH1 via enzyme-linked immunosorbent assay in a cohort of rare genetic prion disease cases, such as genetic CJD (gCJD) cases, exhibiting the E200K, V210I, P102L (Gerstmann-Sträussler-Scheinker syndrome (GSS)), or D178N (fatal familial insomnia (FFI)) mutations in the PRNP. Interestingly, we observed enhanced levels of CSF-MDH1 in all genetic prion disease patients compared to neurological controls (without neurodegeneration). While E200K and V210I carriers showed highest levels of MDH1 with diagnostic discrimination from controls of 0.87 and 0.85 area under the curve (AUC), FFI and GSS patients exhibited only moderately higher CSF-MDH1 levels than controls. An impact of the PRNP codon 129 methionine/valine (MV) genotype on the amount of MDH1 could be excluded. A correlation study of MDH1 levels with other neurodegenerative marker proteins revealed a significant positive correlation between CSF-MDH1 concentration with total tau (tau) but not with 14-3-3 in E200K, as well as in V210I patients. In conclusion, our study indicated the potential use of MDH1 as marker for gCJD patients which may complement the current panel of diagnostic biomarkers.
eng
Evaluation of Human Cerebrospinal Fluid Malate Dehydrogenase 1 as a Marker in Genetic Prion Disease Patients
research article
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URL
https://repisalud.isciii.es/bitstreams/ea023661-f7c3-4777-af99-83d5b772d018/download
File
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application/pdf
EvaluationOfHumanCerebrospinal_2019.pdf
URL
https://repisalud.isciii.es/bitstreams/a54017cd-eee6-4c89-9612-509bcdff4249/download
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EvaluationOfHumanCerebrospinal_2019.pdf.txt