Evidence map›Paper›PMID 37478467›Full record

ArticleLaboratory medicine2024

Droplet digital polymerase chain reaction to measure heteroplasmic m.3243A>G mitochondrial mutations.

Shinya Matsumoto, Takeshi Uchiumi, Nozomi Noda, Yasushi Ueyanagi, Taeko Hotta, Dongchon Kang

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Laboratory medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.6field-weighted citation impact, top 30% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 2 institutions in 1 country.

Shinya MatsumotoDepartment of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, Fukuoka, Japan.ORCID 0000-0001-5166-9036
Takeshi UchiumiDepartment of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, Fukuoka, Japan.
Nozomi NodaDepartment of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, Fukuoka, Japan.
Yasushi UeyanagiDepartment of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, Fukuoka, Japan.
Taeko HottaDepartment of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, Fukuoka, Japan.
Dongchon KangDepartment of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Kyushu University Hospital · JPKyushu University · JP

Funding

Japan Society for the Promotion of Science JP18K15420
6 · The paper itself

Abstract

objectiveDifferent mitochondrial DNA genotypes can coexist in a cell population as well as in a single cell, a condition known as heteroplasmy. Here, we accurately determined the heteroplasmy levels of the m.3243A>G mutation, which is the most frequently identified mutation in patients with mitochondrial diseases, using droplet digital polymerase chain reaction (ddPCR).

methodsThe m.3243A>G heteroplasmy levels in artificial heteroplasmy controls mixed with various proportions of wild-type and mutant plasmids were measured using ddPCR, PCR-restriction fragment length polymorphism, and Sanger sequencing. The m.3243A>G heteroplasmy levels in DNA, extracted from the peripheral blood of patients with suspected mitochondrial disease and healthy subjects, were determined using ddPCR.

resultsThe accuracy of the ddPCR method was high. The lower limit of detection was 0.1%, which indicated its higher sensitivity compared with other methods. The m.3243A>G heteroplasmy levels in peripheral blood, measured using ddPCR, correlated inversely with age at the time of analysis. The m.3243A>G mutation may be overlooked in the peripheral blood-derived DNA of elderly people, as patients >60 years of age have heteroplasmy levels <10%, which is difficult to detect using methods other than the highly sensitive ddPCR.

conclusionddPCR may be considered an accurate and sensitive method for measuring m.3243 A>G heteroplasmy levels of mitochondrial DNA.

Indexed as

DNA, MitochondrialMitochondrial DiseasesAgedHumansMutationPolymerase Chain ReactionPolymorphism, Restriction Fragment LengthDNA, Mitochondrialdroplet digital PCRheteroplasmym.3243A>Gmitochondrial diseasemitochondrial DNAperipheral blood

Identifiers

PMID37478467
PMCPMC10920975
OpenAlexW4384935420

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Registered trials

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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.