Common Mitochondrial DNA Mutations in the General Population
Author Information
Author(s): Elliott Hannah R., Samuels David C., Eden James A., Relton Caroline L., Chinnery Patrick F.
Primary Institution: Newcastle University
Hypothesis
What is the prevalence of mitochondrial DNA mutations in the general population?
Conclusion
At least one in 200 healthy humans harbors a pathogenic mitochondrial DNA mutation that could potentially cause disease in their offspring.
Supporting Evidence
- Mitochondrial DNA mutations were detected in 15 offspring, indicating a prevalence of 0.54%.
- The most common mutation identified was m.3243A→G.
- The study provides an estimate of the de novo mutation rate at 107/100,000 live births.
Takeaway
Many people have tiny changes in their DNA that could make them sick, even if they feel fine right now.
Methodology
The study analyzed 3168 neonatal-cord-blood samples and matched maternal-blood samples to determine the frequency of ten mitochondrial point mutations.
Potential Biases
Potential bias in mutation detection due to the sensitivity of the methods used.
Limitations
The study may not capture all mutations due to detection thresholds and the nature of maternal inheritance.
Participant Demographics
Neonates from sequential live births in North Cumbria, England.
Statistical Information
P-Value
0.00107
Confidence Interval
95% CI = 0.30–0.89%
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website