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Simultaneous Mapping and Quantitation of Ribonucleotides in Human Mitochondrial DNA
12:35

Simultaneous Mapping and Quantitation of Ribonucleotides in Human Mitochondrial DNA

Published on: November 14, 2017

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Biparental Inheritance of Mitochondrial DNA in Humans

Shiyu Luo1,2, C Alexander Valencia1, Jinglan Zhang3

  • 1Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229.

Proceedings of the National Academy of Sciences of the United States of America
|November 28, 2018
PubMed

Insights

Mitochondrial DNA (mtDNA) is usually maternally inherited. However, this study found evidence of biparental mtDNA transmission in three families, suggesting exceptions to the rule.

Area of Science:

  • Genetics
  • Molecular Biology
  • Human Inheritance

Background:

  • Mitochondrial DNA (mtDNA) is predominantly inherited maternally in humans.
  • The possibility of paternal mtDNA transmission has been debated.
  • Understanding mtDNA inheritance is crucial for genetic studies and disease research.

Purpose of the Study:

  • To investigate the inheritance patterns of mitochondrial DNA (mtDNA).
  • To determine if biparental mtDNA transmission occurs in humans.
  • To explore the implications of unusual mtDNA inheritance.

Main Methods:

  • Identified three multigeneration families with high levels of mtDNA heteroplasmy.
  • Conducted high-depth whole mtDNA sequencing analysis.
  • Utilized multiple accredited laboratories for independent verification.

Main Results:

  • Observed significant mtDNA heteroplasmy (24-76%) in 17 individuals across families.
  • Demonstrated biparental mtDNA transmission with an autosomal dominant-like inheritance pattern.
  • Confirmed findings through independent laboratory analyses.

Conclusions:

  • While maternal mtDNA inheritance is the general rule, biparental transmission can occur exceptionally.
  • These findings challenge the strict dogma of maternal inheritance.
  • Further research into the mechanisms of paternal mtDNA transmission may offer new therapeutic strategies for mtDNA-related diseases.
Keywords:
biparental inheritancehuman geneticsmitochondriamtDNApaternal transmission

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