Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Pathogenic mitochondrial DNA mutations are common in the general population.

American journal of human genetics - 1 Aug 2008

Elliott Hannah R, Samuels David C, Eden James A, Relton Caroline L, Chinnery Patrick F

Abstract excerpt

Mitochondrial DNA (mtDNA) mutations are a major cause of genetic disease, but their prevalence in the general population is not known. We determined the frequency of ten mitochondrial point mutations in 3168 neonatal-cord-blood samples from sequential live births, analyzing matched maternal-blood samples to estimate the de novo mutation rate. mtDNA mutations were detected in 15 offspring (0.54%, 95% CI =...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cohort Studies
Share to DNA, Mitochondrial
Share to Fetal Blood

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetics, Population

Share to Heterozygote

Share to Mitochondrial Diseases

Share to Models, Statistical

Share to Prevalence

Source

Open in PubMed Open full text

Identifiers

PMID: 18674747
DOI: 10.1016/j.ajhg.2008.07.004
PMCID: PMC2495064

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pathogenic mitochondrial DNA mutations are common in the general population.PMID 18674747Read ↗

Mitochondrial DNA sequence variation is largely conserved at birth with rare de novo mutations in neonates.Semantic proximity Read ↗

Human mitochondrial DNA: roles of inherited and somatic mutations.Semantic proximity Read ↗

The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease.Semantic proximity Read ↗

Mitochondrial DNA disorders: from pathogenic variants to preventing transmission.Semantic proximity Read ↗

Mitochondrial DNA mutations in human oocytes undergo frequency-dependent selection but do not increase with ageSemantic proximity Read ↗

Mitochondrial DNA mosaicism in human normal somatic cellsSemantic proximity Read ↗

Mitochondrial pathogenic mutations are population-specific.Semantic proximity Read ↗

Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease.Semantic proximity Read ↗

Large-scale blood mitochondrial genome-wide study provides novel insights into mitochondrial disease-related traitsSemantic proximity Read ↗

Inheritance of mitochondrial DNA in humans: implications for rare and common diseases.Semantic proximity Read ↗

The rate and nature of mitochondrial DNA mutations in human pedigrees.Semantic proximity Read ↗

Improving post-natal detection of mitochondrial DNA mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.