ArticleBMC medical genetics2008
Minisequencing mitochondrial DNA pathogenic mutations.
Article in BMC medical genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.Cell reports. Medicine · 2024Article
- Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant.Frontiers in genetics · 2022Article
- NovelGenes · 2020Article
- Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population.Scientific reports · 2019Article
- Understanding structure, function, and mutations in the mitochondrial ATP synthase.Microbial cell (Graz, Austria) · 2015Article
- Haplogrouping mitochondrial DNA sequences in Legal Medicine/Forensic Genetics.International journal of legal medicine · 2012Article
- New insights into the Lake Chad Basin population structure revealed by high-throughput genotyping of mitochondrial DNA coding SNPs.PloS one · 2011Article
- Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder.BMC medical genetics · 2011Article
- A reduced number of mtSNPs saturates mitochondrial DNA haplotype diversity of worldwide population groups.PloS one · 2010Article
- Identification and genotyping of Mycobacterium tuberculosis complex species by use of a SNaPshot Minisequencing-based assay.Journal of clinical microbiology · 2010Article
- Investigating the role of mitochondrial haplogroups in genetic predisposition to meningococcal disease.PloS one · 2009Article
- New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0.PloS one · 2009Article
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThere are a number of well-known mutations responsible of common mitochondrial DNA (mtDNA) diseases. In order to overcome technical problems related to the analysis of complete mtDNA genomes, a variety of different techniques have been proposed that allow the screening of coding region pathogenic mutations.
methodsWe here propose a minisequencing assay for the analysis of mtDNA mutations. In a single reaction, we interrogate a total of 25 pathogenic mutations distributed all around the whole mtDNA genome in a sample of patients suspected for mtDNA disease.
resultsWe have detected 11 causal homoplasmic mutations in patients suspected for Leber disease, which were further confirmed by standard automatic sequencing. Mutations m.11778G>A and m.14484T>C occur at higher frequency than expected by change in the Galician (northwest Spain) patients carrying haplogroup J lineages (Fisher's Exact test, P-value < 0.01). The assay performs well in mixture experiments of wild:mutant DNAs that emulate heteroplasmic conditions in mtDNA diseases.
conclusionWe here developed a minisequencing genotyping method for the screening of the most common pathogenic mtDNA mutations which is simple, fast, and low-cost. The technique is robust and reproducible and can easily be implemented in standard clinical laboratories.
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