ArticleBMC research notes2018
Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers.
Article in BMC research notes, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Mitochondrial DNA (mtDNA) as fluid biomarker in neurodegenerative disorders: A systematic review.European journal of neurology · 2025Pooled it
- Leber's Hereditary Optic Neuropathy from a Rare Variant, m.3700 G > A, in the MT-ND1 Gene in a Family.Neuro-ophthalmology (Aeolus Press) · 2026Article
- Genetic Features and Clinical Heterogeneity of Leber Hereditary Optic Neuropathy in Adolescent and Adult Patients: A Case Series on Arab Patients.International medical case reports journal · 2026Article
- [Pathogenic mechanisms of Leber hereditary optic neuropathy caused by m.3472T>C mutation].Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2025Article
- Biological and translational attributes of mitochondrial DNA copy number: Laboratory perspective to clinical relevance.World journal of methodology · 2025Review
- Association of maternal metabolic conditions with mitochondrial DNA copy number in cord blood.Precision nutrition · 2025Article
- Epigenetic regulation of the nuclear genome associated with mitochondrial dysfunction in Leber's hereditary optic neuropathy (LHON).Human genome variation · 2024Article
- Mitochondrially Targeted Gene Therapy Rescues Visual Loss in a Mouse Model of Leber's Hereditary Optic Neuropathy.International journal of molecular sciences · 2023Article
- Clinical Approaches for Mitochondrial Diseases.Cells · 2023Review
- Current and Future Landscape in Genetic Therapies for Leber Hereditary Optic Neuropathy.Cells · 2023Review
- Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy.Human genomics · 2023Article
- Mitochondrial DNAFrontiers in ophthalmology · 2023Article
- A model to predict a risk of allergic rhinitis based on mitochondrial DNA copy number.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2022Article
- Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain.International journal of molecular sciences · 2021Review
- Mitochondrial DNA copy number in human disease: the more the better?FEBS letters · 2021Review
- Whole Mitochondrial Genome Analysis in Serbian Cases of Leber's Hereditary Optic Neuropathy.Genes · 2020Article
- Thinking outside the nucleus: Mitochondrial DNA copy number in health and disease.Mitochondrion · 2020Review
- Emerging model systems and treatment approaches for Leber's hereditary optic neuropathy: Challenges and opportunities.Biochimica et biophysica acta. Molecular basis of disease · 2020Review
- Brain white matter changes in asymptomatic carriers of Leber's hereditary optic neuropathy.Journal of neurology · 2019Article
- Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers.BMC research notes · 2018Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesLeber's hereditary optic neuropathy (LHON) is a mitochondrial genetic disease characterized by a variable and reduced penetrance. Individuals carrying a primary LHON-causing mitochondrial DNA (mtDNA) mutation may either remain asymptomatic lifelong, as unaffected carriers, or develop sudden central visual loss that rapidly aggravates over some weeks. Over the years several genetic/environmental triggers able to modulate the risk of developing LHON have been proposed. We provided data supporting a possible correlation between LHON penetrance and the mtDNA copy number, a raw index of mitochondrial mass, whose increase could represent a compensatory response that cells implement to alleviate the pathogenic effect of the primary LHON-causing mtDNA mutations. DATA DESCRIPTION: We collected Italian and Spanish subjects harboring one of the three common LHON primary mutations, either in heteroplasmic or homoplasmic status. For each population we were able to discriminate between affected subjects presenting typical clinical tracts of LHON and LHON-causing mutation carriers showing no symptoms correlated with vision loss. Each subject has been characterized for the presence of a LHON primary mutation, for its status of homoplasmy or heteroplasmy, and for the mtDNA content per cell, expressed as relative mtDNA/nDNA ratio respect to controls. Additional clinical information is present for all the Italian subjects.
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