ReviewMolecular neurobiology2010
Mitochondrial DNA mutation-elicited oxidative stress, oxidative damage, and altered gene expression in cultured cells of patients with MERRF syndrome.
Review in Molecular neurobiology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 91 citations in OpenAlex.
- Mitochondrial diseases: from molecular mechanisms to therapeutic advances.Signal transduction and targeted therapy · 2025Review
- Mitochondrial cardiomyopathies: navigating through different clinical and management pictures between adult and paediatric forms.Frontiers in cardiovascular medicine · 2025Review
- Mitochondrial impairment and synaptic dysfunction are associated with neurological defects in iPSCs-derived cortical neurons of MERRF patients.Journal of biomedical science · 2023Article
- Cardiac Involvement in Mitochondrial Disorders.Current heart failure reports · 2023Review
- Mitochondrial calcium cycling in neuronal function and neurodegeneration.Frontiers in cell and developmental biology · 2023Review
- Crosstalk between neuroinflammation and oxidative stress in epilepsy.Frontiers in cell and developmental biology · 2022Review
- Role of oxidative stress in epileptogenesis and potential implications for therapy.Pharmacological reports : PR · 2020Review
- Impaired Mitochondrial Morphology and Functionality inJournal of clinical medicine · 2020Article
- Aerobic Exercise Training in Patients With mtDNA-Related Mitochondrial Myopathy.Frontiers in physiology · 2020Review
- Advances in mt-tRNA Mutation-Caused Mitochondrial Disease Modeling: Patients' Brain in a Dish.Frontiers in genetics · 2020Review
- Mitochondrial Genome (mtDNA) Mutations that Generate Reactive Oxygen Species.Antioxidants (Basel, Switzerland) · 2019Review
- Functional Nutrients for Epilepsy.Nutrients · 2019Review
- Metabolic Dysfunction and Oxidative Stress in Epilepsy.International journal of molecular sciences · 2017Review
- Mitochondrial Transfer from Wharton's Jelly Mesenchymal Stem Cell to MERRF Cybrid Reduces Oxidative Stress and Improves Mitochondrial Bioenergetics.Oxidative medicine and cellular longevity · 2017Article
- Mitochondrial Quality Control Proteases in Neuronal Welfare.Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology · 2016Review
- Mitochondrial Lon protease in human disease and aging: Including an etiologic classification of Lon-related diseases and disorders.Free radical biology & medicine · 2016Review
- Impaired ROS Scavenging System in Human Induced Pluripotent Stem Cells Generated from Patients with MERRF Syndrome.Scientific reports · 2016Article
- Mitochondrial Lon protease at the crossroads of oxidative stress, ageing and cancer.Cellular and molecular life sciences : CMLS · 2015Review
- Oxidative stress in inherited mitochondrial diseases.Free radical biology & medicine · 2015Review
- Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism.Journal of inherited metabolic disease · 2015Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Myoclonic epilepsy and ragged-red fibers (MERRF) syndrome is a rare disorder characterized by myoclonus, muscle weakness, cerebellar ataxia, heart conduction block, and dementia. It has been documented that 80-90% of the patients with MERRF syndrome are caused by the A8344G mutation in the tRNA(Lys) gene of mitochondrial DNA (mtDNA). We and other investigators have reported that the mtDNA mutation results in not only inefficient generation of adenosine triphosphate but also increased production of reactive oxygen species (ROS) in cultured cells harboring A8344G mutation of mtDNA. In addition, we found an imbalance in the gene expression of antioxidant enzymes in the skin fibroblasts of MERRF patients. The mRNA, protein, and enzyme activity levels of manganese-superoxide dismutase were increased, but those of Cu,Zn-SOD, catalase, and glutathione peroxidase did not show significant changes. Recently, we showed that the excess ROS could damage voltage-dependent anion channel, prohibitin, Lon protease, and aconitase in the MERRF cells. Moreover, there was a dramatic increase in the gene expression and activity of matrix metalloproteinase 1, which may contribute to the cytoskeleton remodeling involved in the weakness and atrophy of muscle commonly seen in MERRF patients. Taken together, we suggest that mtDNA mutation-elicited oxidative stress, oxidative damage, and altered gene expression are involved in the pathogenesis and progression of MERRF syndrome.
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