ArticleJournal of human genetics2006
What is a 'novel' mtDNA mutation--and does 'novelty' really matter?
Article in Journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 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.
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Who cites it
27 citing papers in PubMed.
- Understanding the impact of mitochondrial DNA mutations on aging and carcinogenesis (Review).International journal of molecular medicine · 2025Review
- Heterologous Inferential Analysis (HIA) and Other Emerging Concepts: In Understanding Mitochondrial Variation In Pathogenesis: There is no More Low-Hanging Fruit.Methods in molecular biology (Clifton, N.J.) · 2021Article
- Phylogenetic and population-based approaches to mitogenome variation do not support association with male infertility.Journal of human genetics · 2017Article
- The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.Human molecular genetics · 2014Article
- Mitochondrial DNA haplogroups and susceptibility to prostate cancer in a colombian population.ISRN oncology · 2014Article
- Haplogrouping mitochondrial DNA sequences in Legal Medicine/Forensic Genetics.International journal of legal medicine · 2012Article
- Toward a mtDNA locus-specific mutation database using the LOVD platform.Human mutation · 2012Article
- The maintenance of mitochondrial genetic stability is crucial during the oncogenic process.Communicative & integrative biology · 2012Article
- HmtDB, a genomic resource for mitochondrion-based human variability studies.Nucleic acids research · 2012Article
- Mitochondrial subversion in cancer.Cancer prevention research (Philadelphia, Pa.) · 2011Review
- Evolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromes.PloS one · 2011Article
- Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder.BMC medical genetics · 2011Article
- The GHEP-EMPOP collaboration on mtDNA population data--A new resource for forensic casework.Forensic science international. Genetics · 2011Article
- The role of the mitochondrial genome in ageing and carcinogenesis.Journal of aging research · 2011Article
- No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy loss.Journal of assisted reproduction and genetics · 2010Article
- Mitochondrial DNA mutation in normal margins and tumors of recurrent head and neck squamous cell carcinoma patients.Cancer prevention research (Philadelphia, Pa.) · 2010Article
- Biomarker Validation for Aging: Lessons from mtDNA Heteroplasmy Analyses in Early Cancer Detection.Biomarker insights · 2009Article
- Common mitochondrial polymorphisms as risk factor for endometrial cancer.International archives of medicine · 2009Article
- Single-molecule LATE-PCR analysis of human mitochondrial genomic sequence variations.PloS one · 2009Article
- Contamination and sample mix-up can best explain some patterns of mtDNA instabilities in buccal cells and oral squamous cell carcinoma.BMC cancer · 2009Article
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.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The hunt for pathogenic mitochondrial DNA (mtDNA) mutations is often fueled by the seeming novelty of mutations that are either nonsynonymous or affect the protein synthesis machinery in patients. In order to determine the novelty of a detected mutation, the working geneticist nearly always consults MITOMAP--often exclusively. By reanalyzing some case studies of refractory anemia with ring sideroblasts, prostate cancer, and hearing impairment, we demonstrate that the practice of solely relying on MITOMAP can be most misleading. A notorious example is the T1243C mutation, which was assessed to be novel and deemed to be associated with some (rare) disease simply because researchers did not realize that T1243C defines a deep branch in the Eurasian mtDNA phylogeny. The majority of 'novel' mutations suspected of being pathogenic are in actual fact known (and presumably neutral) polymorphisms (although unknown to MITOMAP), and this becomes glaringly evident when proper database searches and straightforward Internet queries are carried out.
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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.