ArticleNeurogenetics2020
Infectious stress triggers a POLG-related mitochondrial disease.
Article in Neurogenetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 16 citations in OpenAlex.
- Caspase-11 drives macrophage hyperinflammation in models of Polg-related mitochondrial disease.Nature communications · 2025Article
- COVID-19 Infection as a Possible Trigger for POLG-Related Mitochondrial Disease: A Case Report.Cureus · 2025Article
- Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study.Annals of clinical and translational neurology · 2024Article
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- Article
- Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).Current issues in molecular biology · 2024Article
- A Clinical Qualification Protocol Highlights Overlapping Genomic Influences and Neuro-Autonomic Mechanisms in Ehlers-Danlos and Long COVID-19 Syndromes.Current issues in molecular biology · 2023Article
- The immune system as a driver of mitochondrial disease pathogenesis: a review of evidence.Orphanet journal of rare diseases · 2022Review
- Mitochondrial respiration restricts Listeria monocytogenes infection by slowing down host cell receptor recycling.Cell reports · 2021Article
- Novel biallelic mutations in POLG gene: large deletion and missense variant associated with PEO.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings.Brain sciences · 2020Review
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A 3-year-old girl presented with severe epilepsy in the context of Borrelia infection. After ceftriaxone/lidocaine administration, she showed secondarily generalized focal crises that led to neurological and motor sequelae. Genetic studies identified in the patient two heterozygous POLG mutations (c.2591A>G; p.Asn864Ser and c.3649G>C; p.Ala1217Pro). Through analysis of POLG activity in cultured fibroblasts, we confirmed that the mutations altered the mtDNA turnover. Moreover, patient fibroblasts were more sensitive than controls in the presence of a mitochondrial replication-affecting drug, the antiretroviral azidothymidine. To test if ceftriaxone treatment could worsen the deleterious effect of the patient mutations, toxicity assays were performed. Cell toxicity, without direct effect on mitochondrial respiratory function, was detected at different antibiotic concentrations. The clinical outcome, together with the different in vitro sensitivity to ceftriaxone among patient and control cells, suggested that the mitochondrial disease symptoms were hastened by the infection and were possibly worsened by the pharmacological treatment. This study underscores the benefit of early genetic diagnosis of the patients with mitochondrial diseases, since they may be a target group of patients especially vulnerable to environmental factors.
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