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

European Journal of Neurology, Journal Year: 2025, Volume and Issue: 32(1)

Published: Jan. 1, 2025

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 CSF levels variant burden Parkinson's disease (PD), Alzheimer's (AD) amyotrophic lateral sclerosis (ALS). Multiple (MS) was also included paradigm of chronic neuroinflammation‐driven neurodegeneration. Methods Medline, Embase, Scopus Web Science were searched for articles published from inception until October 2023. Studies focused on haplogroups or hereditary pathogenic variants excluded. Critical appraisal performed using Quality Assessment Diagnostic Accuracy criteria. Results Fifty‐nine original met our priori‐defined inclusion The majority CSF‐focused showed (i) decreased PD AD; (ii) increased MS compared to controls. No ALS. cell‐free intracellular contradictory, even within evaluating same disease. This poor reproducibility is likely due lack consideration many factors known affect levels. damage methylation reduced patients controls, respectively. A few investigated correlation between severity, with conflicting results. Conclusions Additional well‐designed are needed evaluate profiles biomarkers diseases. identification “mitochondrial subtypes” may enable novel precision medicine strategies counteract

Language: Английский

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Exposure to green space and leukocyte mitochondrial DNA copy number in children and adolescents

Environmental Research, Journal Year: 2025, Volume and Issue: unknown, P. 121352 - 121352

Published: March 1, 2025

Language: Английский

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Mitochondrial DNA copy number and Alzheimer’s disease and Parkinson disease

Mitochondrion, Journal Year: 2025, Volume and Issue: unknown, P. 102032 - 102032

Published: March 1, 2025

Language: Английский

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Biological and translational attributes of mitochondrial DNA copy number: Laboratory perspective to clinical relevance

World Journal of Methodology, Journal Year: 2025, Volume and Issue: 15(3)

Published: March 6, 2025

The mitochondrial DNA copy number (mtDNAcn) plays a vital role in cellular energy metabolism and health. As mitochondria are responsible for adenosine triphosphate production through oxidative phosphorylation, maintaining an appropriate mtDNAcn level is the overall function. Alterations have been linked to various diseases, including neurodegenerative disorders, metabolic conditions, cancers, making it important biomarker understanding disease pathogenesis. accurate estimation of essential clinical applications. Quantitative polymerase chain reaction next-generation sequencing commonly employed techniques with distinct advantages limitations. Clinically, serves as valuable indicator early diagnosis, progression, treatment response. For instance, oncology, elevated levels blood samples associated tumor aggressiveness can aid monitoring efficacy. In diseases such Alzheimer’s Parkinson’s, altered patterns provide insights into mechanisms progression. Understanding estimating critical advancing diagnostic therapeutic strategies medical fields. research continues uncover implications alterations, its potential likely expand, thereby enhancing our ability diagnose manage complex diseases.

Language: Английский

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White Matter Imaging Phenotypes Mediate the Negative Causality of Mitochondrial DNA Copy Number on Sleep Apnea: A Bidirectional Mendelian Randomization Study and Mediation Analysis

Nature and Science of Sleep, Journal Year: 2024, Volume and Issue: Volume 16, P. 2045 - 2061

Published: Dec. 1, 2024

Sleep apnea (SA), associated with absent neural output, is characterised by recurrent episodes of hypoxemia and repeated arousals during sleep, resulting in decreased sleep quality various health complications. Mitochondrial DNA copy number (mtDNA-CN), an easily accessible biomarker blood, reflects mitochondrial function. However, the causal relationship between mtDNA-CN SA remains unclear. This study aimed to investigate causality while identifying potential mediating brain imaging phenotypes (BIPs).

Language: Английский

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Functional Impact of Nth-like DNA glycosylase on Mitochondrial Dynamics

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: Oct. 11, 2024

ABSTRACT Nth-like DNA glycosylase (NTHL1) is a base excision repair enzyme, with crucial role both in nuclear and mitochondrial genomic maintenance. In this study, we demonstrate key function of NTHL1 on (mtDNA) maintenance dynamics. Our results reveal significant accumulation transcripts increased mtDNA levels NTHL1-deficient cells, accompanied by an lesions. These findings underscore the essential protecting against damage. addition to OXPHOS mRNA protein levels, Seahorse analyzer measurements further demonstrated enhanced respiratory capacity elevated oxygen consumption rates. Furthermore, deficiency was associated size fusion Dynamin-like GTPase OPA1, mitochondrial, long form (L-OPA1). Notably, knockout cells showed resistance 1-methyl-4-phenylpyridinium (MPP+)-induced stress, indicating that loss promotes resilience adaptive response oxidative stress. Combined, these indicate complex phenotype where plays multifaceted its leads mild dysfunction activates mitohormesis. This study thus extends known functions beyond repair, highlighting critical health regulation cellular

Language: Английский

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