Related Experiment Video
Updated: Aug 31, 2025
07:24
Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
1.6K
Modulating Mitochondrial DNA Heteroplasmy with Mitochondrially Targeted Endonucleases
Nikita Mikhailov1, Riikka H Hämäläinen2
1A.I.Virtanen Institute for Molecular Sciences, University of Eastern Finland, 70211, Kuopio, Finland.
Annals of Biomedical Engineering
|August 24, 2022
Summary
Engineered nucleases like TALENs and ZFNs offer a novel therapeutic strategy for mitochondrial DNA (mtDNA) diseases by altering the ratio of healthy to mutant mtDNA. This approach holds promise for treating patients and preventing inherited mtDNA mutations.
Area of Science:
- Cell Biology
- Genetics
- Biochemistry
Background:
- Mitochondria are crucial cellular hubs with their own genome (mtDNA).
- Mutations in mtDNA are linked to various human diseases.
- mtDNA mutations often occur in heteroplasmic states, impacting disease severity.
Purpose of the Study:
- To review current strategies for modulating mitochondrial heteroplasmy.
- To discuss the therapeutic potential of engineered endonucleases for mtDNA diseases.
Main Methods:
- Review of engineered endonucleases, specifically mitochondrially targeted TALENs and Zinc finger nucleases (ZFNs).
- Analysis of strategies for shifting the ratio of healthy to mutant mtDNA.
Main Results:
- Engineered endonucleases demonstrate potential for correcting mtDNA heteroplasmy.
- These gene therapy tools could offer therapeutic benefits for patients with mitochondrial disorders.
Conclusions:
- Modulating mitochondrial heteroplasmy is a viable therapeutic avenue for mtDNA diseases.
- Targeted nucleases present a promising gene therapy approach for both treatment and prevention of inherited mtDNA mutations.
Related Concept Videos
02:59Animal Mitochondrial Genetics
7.9K
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...
7.9K
02:19Export of Mitochondrial and Chloroplast Genes
3.7K
A eukaryotic cell can have up to three different types of genetic systems: nuclear, mitochondrial, and chloroplast. During evolution, organelles have exported many genes to the nucleus; this transfer is still ongoing in some plant species. Approximately 18% of the Arabidopsis thaliana nuclear genome is thought to be derived from the chloroplast’s cyanobacterial ancestor, and around 75% of the yeast genome derived from the mitochondria’s bacterial ancestor. This export has occurred...
3.7K
01:19Translocation of Proteins into the Mitochondria
3.2K
Mitochondrial precursors are translocated to the internal subcompartments via independent mechanisms involving distinct protein machineries called translocases.
Sorting of outer membrane proteins:
Mitochondrial outer membrane proteins are of two types: the transmembrane, beta-barrel porins, and the membrane-anchored, alpha-helical proteins. Beta-barrel porin precursors are translocated by the TOM complex and inserted into the outer mitochondrial membrane by the SAM complex. In contrast,...
Sorting of outer membrane proteins:
Mitochondrial outer membrane proteins are of two types: the transmembrane, beta-barrel porins, and the membrane-anchored, alpha-helical proteins. Beta-barrel porin precursors are translocated by the TOM complex and inserted into the outer mitochondrial membrane by the SAM complex. In contrast,...
3.2K