Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Animal Mitochondrial Genetics

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...

Mitochondrial Membranes

Mitochondrial Membranes

A single mitochondrion is a bean-shaped organelle enclosed by a double-membrane system. The outer membrane of mitochondria is smooth and contains many porins - the integral membrane transporters. Porins enable free diffusion of ions and small uncharged molecules through the outer mitochondrial membrane but limit the transport of molecules larger than 5000 Daltons. Further, the outer mitochondrial membrane forms a unique structure called membrane contact sites with other subcellular organelles,...

Meiosis vs. Mitosis

Meiosis vs. Mitosis

Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...

Mutations

Mutations

Mutations

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

Mismatch Repair

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Loss of mitochondrial DNA helicase in retinal macroglia drives neovascular retinopathy.

EMBO molecular medicine·2026

Same author

Patient specific regulation of metabolism and cell death pathways in m.3243A>G mutated iPS-cells.

Scientific reports·2026

Same author

Pluripotent stem-cell-based screening uncovers sildenafil as a mitochondrial disease therapy.

Cell·2026

Same author

Food sources of macro- and micronutrients in young children and adults following vegan, vegetarian, and omnivorous diets.

European journal of nutrition·2026

Same author

Mosaic variegated aneuploidy as a novel feature in patients with Mulibrey nanism and <i>TRIM37</i> variants.

Journal of medical genetics·2026

Same author

Mitochondrial Genetics in Cardiovascular Health and Disease: A Scientific Statement From the American Heart Association.

Circulation·2025

Search research articles

Related Experiment Video

Updated: Jun 24, 2026

Transmitochondrial Cybrid Generation Using Cancer Cell Lines

Transmitochondrial Cybrid Generation Using Cancer Cell Lines

Published on: March 17, 2023

Do mitochondrial mutations cause recurrent miscarriage?

Milja Kaare¹, Alexandra Götz, Veli-Matti Ulander

¹Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland. milja.kaare@helsinki.fi

Molecular Human Reproduction

|March 20, 2009

Summary

Mitochondrial DNA (mtDNA) variations were investigated in recurrent miscarriage (RM). While heteroplasmic mtDNA variations were found in both RM and control groups, no increased frequency was observed in RM, suggesting they are unlikely to cause miscarriage.

More Related Videos

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model

Published on: March 9, 2022

Related Experiment Videos

Last Updated: Jun 24, 2026

Transmitochondrial Cybrid Generation Using Cancer Cell Lines

Transmitochondrial Cybrid Generation Using Cancer Cell Lines

Published on: March 17, 2023

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model

Published on: March 9, 2022

Area of Science:

Reproductive Biology
Genetics
Mitochondrial Biology

Background:

Recurrent miscarriage (RM) etiology remains unknown in about 50% of cases, prompting investigation into genetic factors.
Mitochondrial DNA (mtDNA) plays a crucial role in human development, energy production, and apoptosis.

Purpose of the Study:

To investigate the potential role of mitochondrial DNA (mtDNA) variations in recurrent miscarriage (RM).
To screen for heteroplasmic mitochondrial mutations in women with RM and age-matched controls.

Main Methods:

Screening of 48 women with RM and 48 controls for heteroplasmic mitochondrial mutations.
Utilized denaturing high-performance liquid chromatography (DHPLC) for sensitive detection of heteroplasmy (approx. 5%).
Analyzed variations in both coding and non-coding regions of mtDNA, and in placental samples.

Main Results:

Heteroplasmic mtDNA variations detected in 27% of RM women and 19% of controls.
Identified both synonymous and non-synonymous changes in coding regions, and variations in the non-coding control region.
Found higher variant mtDNA proportions in three placental samples compared to maternal samples, but no overall increased frequency in the RM group.

Conclusions:

Sensitive methods detected heteroplasmic variations more frequently than anticipated in both RM and control groups.
No significant increase in heteroplasmic mtDNA variations or aberrant mtDNA levels was found in the recurrent miscarriage group.
Detected variations were not previously known to be pathogenic, making them unlikely causes of recurrent miscarriage.