ReviewThe Journal of molecular diagnostics : JMD2003
Techniques and pitfalls in the detection of pathogenic mitochondrial DNA mutations.
Review in The Journal of molecular diagnostics : JMD, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Protective Effects of Micronutrient Supplements, Phytochemicals and Phytochemical-Rich Beverages and Foods Against DNA Damage in Humans: A Systematic Review of Randomized Controlled Trials and Prospective Studies.Advances in nutrition (Bethesda, Md.) · 2023Pooled it
- Mitochondrial DNA mutations and intercellular mitochondrial transfer in cancer: mechanisms, biological effects, and clinical potential.Biomarker research · 2026Review
- mitoTALEN reduces the mutant mtDNA load in neurons.Molecular therapy. Nucleic acids · 2024Article
- Common mitochondrial deletions in RNA-Seq: evaluation of bulk, single-cell, and spatial transcriptomic datasets.Communications biology · 2024Article
- Mitochondria as the memory of preconditioning.Conditioning medicine · 2021Article
- Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing.PLoS genetics · 2020Article
- Impaired Ganglion Cell Function Objectively Assessed by the Photopic Negative Response in Affected and Asymptomatic Members From Brazilian Families With Leber's Hereditary Optic Neuropathy.Frontiers in neurology · 2020Article
- Detection of Mitochondrial Mutations Through Isothermal Nucleic Acid Amplification Coupled With Clustered Regularly Interspaced Short Palindromic Repeat-Associated Endonuclease Cas13a.Frontiers in genetics · 2020Article
- The unresolved role of mitochondrial DNA in Parkinson's disease: An overview of published studies, their limitations, and future prospects.Neurochemistry international · 2019Review
- Splice-Break: exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders.Nucleic acids research · 2019Article
- eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Analysis of Human Mitochondrial DNA Content by Southern Blotting and Nonradioactive Probe Hybridization.Current protocols in toxicology · 2019Article
- Quantitative Variation in m.3243A > G Mutation Produce Discrete Changes in Energy Metabolism.Scientific reports · 2019Article
- Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing.Frontiers in genetics · 2018Review
- Digital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions.Scientific reports · 2016Article
- Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Review
- Triplex real-time PCR--an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells.Scientific reports · 2015Article
- Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families.Journal of the neurological sciences · 2012Article
- The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.European journal of human genetics : EJHG · 2012Article
- Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.Journal of the neurological sciences · 2011Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the mitochondrial DNA (mtDNA) are now recognized as major contributors to human pathologies and possibly to normal aging. A large number of rearrangements and point mutations in protein coding and tRNA genes have been identified in patients with mitochondrial disorders. In this review, we discuss genotype-phenotype correlations in mitochondrial diseases and common techniques used to identify pathogenic mtDNA mutations in human tissues. Although most of these approaches employ standard molecular biology tools, the co-existence of wild-type and mutated mtDNA (mtDNA heteroplasmy) in diseased tissues complicates both the detection and accurate determination of the size of the mutated fractions. To address these problems, novel approaches were developed and are discussed in this review.
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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.