ArticleScientific reports2018
Mitochondrial Mutations in Cholestatic Liver Disease with Biliary Atresia.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 33 citations in OpenAlex.
- Mitochondrial DNA (MtDNA) 3243 A>G mutation associated with recurrent cholangitis post-Kasai procedure in biliary atresia.Translational pediatrics · 2026Article
- Before biliary atresia is claimed as a phenotypic manifestation of the m.3243A>G variant, the causal relationship must be proven.Translational pediatrics · 2026Article
- Mitochondrial DNA variants and susceptibility to anti-tuberculosis drug-induced liver injury in Korean patients.The pharmacogenomics journal · 2025Article
- MtDNA 3243 A>G mutation and recurrent cholangitis after Kasai procedure in biliary atresia: a case report.Translational pediatrics · 2025Article
- Reactivation of a Transplant Recipient's Inherited Human Herpesvirus 6 and Implications to the Graft.The Journal of infectious diseases · 2025Article
- The effect of somatic mutations in mitochondrial DNA on the survival of patients with primary brain tumors.Croatian medical journal · 2024Article
- Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseases.Hepatology communications · 2024Article
- Genetic Contributions to Biliary Atresia: A Developmental Cholangiopathy.Seminars in liver disease · 2023Review
- Metabolic Priming as a Tool in Redox and Mitochondrial Theragnostics.Antioxidants (Basel, Switzerland) · 2023Review
- Article
- Differential requirements for mitochondrial electron transport chain components in the adult murine liver.eLife · 2022Article
- Hepatic Mitochondrial Dysfunction and Risk of Liver Disease in an Ovine Model of "PCOS Males".Biomedicines · 2022Article
- Vitexin ameliorates glycochenodeoxycholate-induced hepatocyte injury through SIRT6 and JAK2/STAT3 pathways.Iranian journal of basic medical sciences · 2021Article
- Novel findings from family-based exome sequencing for children with biliary atresia.Scientific reports · 2021Article
- Identification of HCC Subtypes With Different Prognosis and Metabolic Patterns Based on Mitophagy.Frontiers in cell and developmental biology · 2021Article
- Article
- Cellular stress responses and dysfunctional Mitochondrial-cellular senescence, and therapeutics in chronic respiratory diseases.Redox biology · 2020Review
- Biliary atresia: pathology, etiology and pathogenesis.Future science OA · 2020Review
- Molecular Dynamics Simulation of T10609C and C10676G Mutations of MitochondrialBioinformatics and biology insights · 2020Article
- The first complete mitochondrial genome sequence of the korean endemic catfishMitochondrial DNA. Part B, Resources · 2019Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Biliary atresia (BA) results in severe bile blockage and is caused by the absence of extrahepatic ducts. Even after successful hepatic portoenterostomy, a considerable number of patients are likely to show progressive deterioration in liver function. Recent studies show that mutations in protein-coding mitochondrial DNA (mtDNA) genes and/or mitochondrial genes in nuclear DNA (nDNA) are associated with hepatocellular dysfunction. This observation led us to investigate whether hepatic dysfunctions in BA is genetically associated with mtDNA mutations. We sequenced the mtDNA protein-coding genes in 14 liver specimens from 14 patients with BA and 5 liver specimens from 5 patients with choledochal cyst using next-generation sequencing. We found 34 common non-synonymous variations in mtDNA protein-coding genes in all patients examined. A systematic 3D structural analysis revealed the presence of several single nucleotide polymorphism-like mutations in critical regions of complexes I to V, that are involved in subunit assembly, proton-pumping activity, and/or supercomplex formation. The parameters of chronic hepatic injury and liver dysfunction in BA patients were also significantly correlated with the extent of hepatic failure, suggesting that the mtDNA mutations may aggravate hepatopathy. Therefore, mitochondrial mutations may underlie the pathological mechanisms associated with BA.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.