ArticleJournal of human genetics2004
mtDNA/nDNA ratio in 14484 LHON mitochondrial mutation carriers.
Article in Journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
12 citing papers in PubMed, 29 citations in OpenAlex.
- Mitochondrial DNAFrontiers in ophthalmology · 2023Article
- Mitochondrial DNA heteroplasmy in disease and targeted nuclease-based therapeutic approaches.EMBO reports · 2020Review
- High Tumor Mitochondrial DNA Content Correlates With an Improved Patient's Outcome in WHO Grade III Meningioma.Frontiers in oncology · 2020Article
- Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation.Orphanet journal of rare diseases · 2019Article
- Brain white matter changes in asymptomatic carriers of Leber's hereditary optic neuropathy.Journal of neurology · 2019Article
- Structural impairment patterns in peripapillary retinal fiber layer and retinal ganglion cell layer in mitochondrial optic neuropathies.International journal of ophthalmology · 2018Article
- Effect of lifelong football training on the expression of muscle molecular markers involved in healthy longevity.European journal of applied physiology · 2017Article
- Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.Brain : a journal of neurology · 2014Article
- The optic nerve: a "mito-window" on mitochondrial neurodegeneration.Molecular and cellular neurosciences · 2013Review
- Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand.Human genetics · 2010Article
- Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation.Journal of medical genetics · 2007Article
- Increased relative mitochondrial DNA content in leucocytes of patients with NAION.The British journal of ophthalmology · 2006Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Leber's hereditary optic neuropathy (LHON) is a maternally inherited disease caused by mitochondrial DNA (mtDNA) mutations. In this study, the mtDNA/nuclear DNA ratio was evaluated in 11 LHON patients with the 14484 mutation, 13 asymptomatic carriers and 18 non-carrier relatives as controls, to reveal possible relationships between the disease and mtDNA content. DNAs from peripheral blood lymphocytes were subjected to quantitative PCR. Gender differences and age-dependent changes in the mtDNA content were not observed. Significant increase in the mtDNA content was observed only in the asymptomatic carriers (P<0.05). This indicated that individuals whose mtDNA content had increased and been maintained at certain levels were free from LHON development, whereas those whose levels had not, had developed LHON. Since the asymptomatic carriers are the stock of the future LHON patients, monitoring the mtDNA content in patients and their relatives may help to predict the prognosis of the disease.
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Registered trials
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.