ArticleEuropean journal of medical genetics2016
Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.
Article in European journal of medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 26 citations in OpenAlex.
- The pivotal role of mitochondria in the pathogenesis and treatment of liver failure: a comprehensive review.Molecular and cellular biochemistry · 2026Review
- Model organisms in POLG-related disorders: insights from yeast to multicellular systems.Cell death & disease · 2025Review
- Mitochondrial DNA Replication and Disease: A Historical Perspective on Molecular Insights and Therapeutic Advances.International journal of molecular sciences · 2025Review
- Coordinated DNA polymerization by Polγ and the region of LonP1 regulated proteolysis.Nucleic acids research · 2024Article
- POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.Cerebellum (London, England) · 2024Review
- Pathological and Therapeutic Advances in Parkinson's Disease: Mitochondria in the Interplay.Journal of Alzheimer's disease : JAD · 2023Review
- Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions.Molecular genetics & genomic medicine · 2022Article
- Therapy Prospects for Mitochondrial DNA Maintenance Disorders.International journal of molecular sciences · 2021Review
- Mitochondrial DNA copy number in human disease: the more the better?FEBS letters · 2021Review
- Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion.Case reports in genetics · 2021Article
- Camptocormia as a Novel Phenotype in a HeterozygousDiagnostics (Basel, Switzerland) · 2020Article
- Diet induced the change of mtDNA copy number and metabolism in Angus cattle.Journal of animal science and biotechnology · 2020Article
- A Brief History of Mitochondrial Pathologies.International journal of molecular sciences · 2019Article
- AJournal of clinical neurology (Seoul, Korea) · 2019Article
- Marek's Disease Virus Infection Induced Mitochondria Changes in Chickens.International journal of molecular sciences · 2019Article
- Efficient Reconstitution of Hepatic Microvasculature by Endothelin Receptor Antagonism in Liver Sinusoidal Endothelial Cells.Human gene therapy · 2019Article
- Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Replicative stress and alterations in cell cycle checkpoint controls following acetaminophen hepatotoxicity restrict liver regeneration.Cell proliferation · 2018Article
- Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.PloS one · 2018Article
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Authors and funding
12 authors at 4 institutions in 1 country.
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Abstract
Mitochondrial DNA (mtDNA) depletion syndrome manifests as diverse early-onset diseases that affect skeletal muscle, brain and liver function. Mutations in several nuclear DNA-encoded genes cause mtDNA depletion. We report on a patient, a 3-month-old boy who presented with hepatic failure, and was found to have severe mtDNA depletion in liver and muscle. Whole-exome sequencing identified a homozygous missense variant (c.544C > T, p.R182W) in the accessory subunit of mitochondrial DNA polymerase gamma (POLG2), which is required for mitochondrial DNA replication. This variant is predicted to disrupt a critical region needed for homodimerization of the POLG2 protein and cause loss of processive DNA synthesis. Both parents were phenotypically normal and heterozygous for this variant. Heterozygous mutations in POLG2 were previously associated with progressive external ophthalmoplegia and mtDNA deletions. This is the first report of a patient with a homozygous mutation in POLG2 and with a clinical presentation of severe hepatic failure and mitochondrial depletion.
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