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Mitochondrial DNA (mtDNA) as fluid biomarker in neurodegenerative disorders: A systematic review.


ABSTRACT:

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 Stu

SUBMITTER: Risi B 

PROVIDER: S-EPMC11744304 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature