Mitochondrial DNA ( mtDNA ) as fluid biomarker in neurodegenerative disorders: A systematic review
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Le résumé fourni par la source
BACKGROUND: Several studies evaluated peripheral and cerebrospinal fluid (CSF) mtDNA as a putative biomarker in neurodegenerative diseases, often yielding inconsistent findings. We systematically reviewed the current evidence assessing blood and CSF mtDNA levels and variant burden in Parkinson's disease (PD), Alzheimer's disease (AD) and amyotrophic lateral sclerosis (ALS). Multiple sclerosis (MS) was also included as a paradigm of chronic neuroinflammation-driven neurodegeneration. METHODS: Medline, Embase, Scopus and Web of Science were searched for articles published from inception until October 2023. Studies focused on mtDNA haplogroups or hereditary pathogenic variants were excluded. Critical appraisal was performed using the Quality Assessment for Diagnostic Accuracy Studies criteria. RESULTS: Fifty-nine original studies met our a priori-defined inclusion criteria. The majority of CSF-focused studies showed (i) decreased mtDNA levels in PD and AD; (ii) increased levels in MS compared to controls. No studies evaluated CSF mtDNA in ALS. Results focused on blood cell-free and intracellular mtDNA were contradictory, even within studies evaluating the same disease. This poor reproducibility is likely due to the lack of consideration of the many factors known to affect mtDNA levels. mtDNA damage and methylation levels were increased and reduced in patients compared to controls, respectively. A few studies investigated the correlation between mtDNA and disease severity, with conflicting results. CONCLUSIONS: Additional well-designed studies are needed to evaluate CSF and blood mtDNA profiles as putative biomarkers in neurodegenerative diseases. The identification of "mitochondrial subtypes" of disease may enable novel precision medicine strategies to counteract neurodegeneration.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé, mais le titre doit être comparé manuellement.
- Titre Crossref
- Mitochondrial <scp>DNA</scp> ( <scp>mtDNA</scp> ) as fluid biomarker in neurodegenerative disorders: A systematic review
- Date Crossref
- 01/01/2025
- Éditeur
- Wiley
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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University of Brescia pays non établi dans la noticeUniversité ou école supérieure
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University of Pavia pays non établi dans la noticeUniversité ou école supérieure
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Fondazione Istituto Neurologico Nazionale Casimiro Mondino pays non établi dans la noticeStructure de recherche
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Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia pays non établi dans la noticeÉtablissement de santé
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NeMO‐Brescia Clinical Center for Neuromuscular Diseases Brescia Italy pays non établi dans la noticeÉtablissement de santé
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Neurogenetics Research Centre IRCCS Mondino Foundation Pavia Italy pays non établi dans la noticeStructure de recherche
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Unit of Neurology ASST Spedali Civili Brescia Italy pays non établi dans la noticeInstitution
University of Brescia, University of Pavia et Fondazione Istituto Neurologico Nazionale Casimiro Mondino, avec 4 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.