{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Zanini G"],"funding":["Fondazione Cassa di Risparmio di Modena","European Union-Next Generation EU, Mission 6, Component 2"],"pagination":["1433"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12468903"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["14(18)"],"pubmed_abstract":["Mitochondrial dysfunction is a key pathological hallmark in amyotrophic lateral sclerosis (ALS), yet the role of circulating cell-free mitochondrial DNA (Cf-mtDNA) as a biomarker remains unclear. This study aimed to investigate serum Cf-mtDNA levels in ALS patients compared to healthy controls and explore its associations with disease biomarkers, clinical progression, and survival. We conducted a case-control study measuring Cf-mtDNA levels in serum samples from 54 ALS patients and 36 age- and sex-matched healthy controls using quantitative droplet digital PCR. Correlations between Cf-mtDNA levels and clinical features, neurofilament concentrations, inflammatory indices, and survival were assessed. The average Cf-mtDNA level in ALS patients was 2,426,315 copies/mL of serum (IQR: 865000-247"],"journal":["Cells"],"pubmed_title":["Circulating Serum Cell-Free Mitochondrial DNA in Amyotrophic Lateral Sclerosis."],"pmcid":["PMC12468903"],"funding_grant_id":["Neurobiobanca di Modena","CUP F93C24000310005"],"pubmed_authors":["Gianferrari G","Zanini G","Banchelli F","Ghezzi A","Simonini C","Pinti M","Zucchi E","Mandrioli J","Martinelli I","Sinigaglia G"],"additional_accession":[]},"is_claimable":false,"name":"Circulating Serum Cell-Free Mitochondrial DNA in Amyotrophic Lateral Sclerosis.","description":"Mitochondrial dysfunction is a key pathological hallmark in amyotrophic lateral sclerosis (ALS), yet the role of circulating cell-free mitochondrial DNA (Cf-mtDNA) as a biomarker remains unclear. This study aimed to investigate serum Cf-mtDNA levels in ALS patients compared to healthy controls and explore its associations with disease biomarkers, clinical progression, and survival. We conducted a case-control study measuring Cf-mtDNA levels in serum samples from 54 ALS patients and 36 age- and sex-matched healthy controls using quantitative droplet digital PCR. Correlations between Cf-mtDNA levels and clinical features, neurofilament concentrations, inflammatory indices, and survival were assessed. The average Cf-mtDNA level in ALS patients was 2,426,315 copies/mL of serum (IQR: 865000-247","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Sep","modification":"2026-05-01T03:21:02.922Z","creation":"2026-05-01T03:10:59.078Z"},"accession":"S-EPMC12468903","cross_references":{"pubmed":["41002398"],"doi":["10.3390/cells14181433"]}}