Combining bacterial end joining with programmable nucleases, we induced mtDNA deletions in human cells at varying heteroplasmy and examined their metabolic and cellular effects. Simple tool to apply across any cell type and engineer pathogenic mtDNA deletions. www.sciencedirect.com/science/arti...
Engineering mtDNA deletions by reconstituting end joining in human mitochondria
Recent breakthroughs in the genetic manipulation of mitochondrial DNA (mtDNA) have enabled precise base substitutions and the efficient elimination of…
www.sciencedirect.com
March 10, 2025 at 6:38 PM
Combining bacterial end joining with programmable nucleases, we induced mtDNA deletions in human cells at varying heteroplasmy and examined their metabolic and cellular effects. Simple tool to apply across any cell type and engineer pathogenic mtDNA deletions. www.sciencedirect.com/science/arti...
Excited to share our latest paper in Science Advances! We finally dissected a new pathway for mitochondrial quality control upon mtDNA replication stress! Let’s start a short thread! 🧵
www.science.org/doi/10.1126/...
www.science.org/doi/10.1126/...
Retromer promotes the lysosomal turnover of mtDNA
Lysosomal uptake of mtDNA controls mitochondrial quality.
www.science.org
April 4, 2025 at 6:42 PM
Excited to share our latest paper in Science Advances! We finally dissected a new pathway for mitochondrial quality control upon mtDNA replication stress! Let’s start a short thread! 🧵
www.science.org/doi/10.1126/...
www.science.org/doi/10.1126/...
Really hyped to share our pre-print on mtDNA replication-fission !
@nanigrotjahn.bsky.social
(doi: doi.org/10.64898/202...)
🧵with details below ⤵️
@nanigrotjahn.bsky.social
(doi: doi.org/10.64898/202...)
🧵with details below ⤵️
ATAD3A structurally links mtDNA replication and mitochondrial fission
Mitochondrial function depends on the maintenance of its genome, and disruptions in copy number and distribution are hallmarks of mitochondrial disorders. Mitochondrial DNA (mtDNA) replication is spat...
doi.org
June 27, 2026 at 1:14 AM
Really hyped to share our pre-print on mtDNA replication-fission !
@nanigrotjahn.bsky.social
(doi: doi.org/10.64898/202...)
🧵with details below ⤵️
@nanigrotjahn.bsky.social
(doi: doi.org/10.64898/202...)
🧵with details below ⤵️
ATAD3A structurally links mtDNA replication and mitochondrial fission pubmed.ncbi.nlm.nih.gov/42798394/ #cryoem
September 27, 2026 at 7:10 AM
ATAD3A structurally links mtDNA replication and mitochondrial fission pubmed.ncbi.nlm.nih.gov/42798394/ #cryoem
Our paper is now out in Science! Super excited to share our discovery that #mitochondria #pearling is the elusive mechanism driving the regular distribution and inheritance of #mtDNA nucleoids 🧬 [1/6]
April 3, 2026 at 12:46 PM
Our paper is now out in Science! Super excited to share our discovery that #mitochondria #pearling is the elusive mechanism driving the regular distribution and inheritance of #mtDNA nucleoids 🧬 [1/6]
Thomas Hurd (Univ Toronto) @tomhurd on how paternal mtDNA gets “cut out of inheritance”; 100s of mtDNA in oocyte but <1 per sperm; this elimination takes place within spermatogenesis from immature to mature sperm; mtDNA eliminated but not mitochondria themselves (sperm need energy to swim) #Dros26
March 5, 2026 at 5:15 PM
Thomas Hurd (Univ Toronto) @tomhurd on how paternal mtDNA gets “cut out of inheritance”; 100s of mtDNA in oocyte but <1 per sperm; this elimination takes place within spermatogenesis from immature to mature sperm; mtDNA eliminated but not mitochondria themselves (sperm need energy to swim) #Dros26
How do cells assess mtDNA quality?
Local ATP and membrane-potential gradients reflect mtDNA integrity and drive intracellular purifying selection.
We introduce FAST, a scalable mtDNA QC assay in S. cerevisiae.
Great collaboration with the Schmoller Lab.
journals.plos.org/plosgenetics...
🧬⚡
Local ATP and membrane-potential gradients reflect mtDNA integrity and drive intracellular purifying selection.
We introduce FAST, a scalable mtDNA QC assay in S. cerevisiae.
Great collaboration with the Schmoller Lab.
journals.plos.org/plosgenetics...
🧬⚡
Local mitochondrial physiology defined by mtDNA quality guides purifying selection
Author summary Mitochondria are essential organelles in our cells that convert nutrients into usable cellular energy. They contain their own DNA, and mutations in this DNA can compromise mitochondrial...
journals.plos.org
January 10, 2026 at 4:00 PM
How do cells assess mtDNA quality?
Local ATP and membrane-potential gradients reflect mtDNA integrity and drive intracellular purifying selection.
We introduce FAST, a scalable mtDNA QC assay in S. cerevisiae.
Great collaboration with the Schmoller Lab.
journals.plos.org/plosgenetics...
🧬⚡
Local ATP and membrane-potential gradients reflect mtDNA integrity and drive intracellular purifying selection.
We introduce FAST, a scalable mtDNA QC assay in S. cerevisiae.
Great collaboration with the Schmoller Lab.
journals.plos.org/plosgenetics...
🧬⚡
Structural mechanism of Gasdermin E-mediated mtDNA release from apoptotic mitochondria https://www.biorxiv.org/content/10.64898/2026.09.29.755391v1
September 30, 2026 at 11:16 AM
Structural mechanism of Gasdermin E-mediated mtDNA release from apoptotic mitochondria https://www.biorxiv.org/content/10.64898/2026.09.29.755391v1
Engineering mtDNA deletions by reconstituting end joining in human mitochondria: Cell www.cell.com/cell/fulltex...
Engineering mtDNA deletions by reconstituting end joining in human mitochondria
Combined expression of a mitochondrially targeted endonuclease and end-joining machinery
enables formation of mtDNA deletions with a broad range of heteroplasmy.
www.cell.com
March 10, 2025 at 3:05 PM
Engineering mtDNA deletions by reconstituting end joining in human mitochondria: Cell www.cell.com/cell/fulltex...
Are u tired of reading about tariffs? Then take a look to our last work! @science.org
www.science.org/doi/10.1126/...
www.science.org/doi/10.1126/...
Retromer promotes the lysosomal turnover of mtDNA
Lysosomal uptake of mtDNA controls mitochondrial quality.
www.science.org
April 4, 2025 at 6:07 PM
Are u tired of reading about tariffs? Then take a look to our last work! @science.org
www.science.org/doi/10.1126/...
www.science.org/doi/10.1126/...
Fun fact for Mother’s Day
While nuclear DNA is inherited from both parents, mitochondrial DNA (mtDNA) is inherited from the mother.
mtDNA largely remains unchanged across generations.
It played a key role in identifying the buried remains of Russia’s Romanovs.
🧪 nigms.nih.gov/biobeat/2020...
While nuclear DNA is inherited from both parents, mitochondrial DNA (mtDNA) is inherited from the mother.
mtDNA largely remains unchanged across generations.
It played a key role in identifying the buried remains of Russia’s Romanovs.
🧪 nigms.nih.gov/biobeat/2020...
May 10, 2026 at 10:51 PM
Fun fact for Mother’s Day
While nuclear DNA is inherited from both parents, mitochondrial DNA (mtDNA) is inherited from the mother.
mtDNA largely remains unchanged across generations.
It played a key role in identifying the buried remains of Russia’s Romanovs.
🧪 nigms.nih.gov/biobeat/2020...
While nuclear DNA is inherited from both parents, mitochondrial DNA (mtDNA) is inherited from the mother.
mtDNA largely remains unchanged across generations.
It played a key role in identifying the buried remains of Russia’s Romanovs.
🧪 nigms.nih.gov/biobeat/2020...
#Mitochondria & #aging #neurodegenerativedisease #kidneydisease & much more #mitochondrialdisease insights from @cvasilescu.bsky.social in this week's @biomednews.bsky.social curation. Check it out!
#mitoscientists #UMDF #mtDNA #mitochondrialtransplantation
#mitoscientists #UMDF #mtDNA #mitochondrialtransplantation
Happy Sunday with a new edition of Mitochondria in Health and Disease!
Full edition online: biomed.news/bims-mitdis/...
See below for highlights 👇
@biomednews.bsky.social @gavinmcstay.bsky.social @mitoscientist.bsky.social @mitoscientists.bsky.social @mito-news.bsky.social @mitoworld.bsky.social
Full edition online: biomed.news/bims-mitdis/...
See below for highlights 👇
@biomednews.bsky.social @gavinmcstay.bsky.social @mitoscientist.bsky.social @mitoscientists.bsky.social @mito-news.bsky.social @mitoworld.bsky.social
September 28, 2026 at 5:19 PM
#Mitochondria & #aging #neurodegenerativedisease #kidneydisease & much more #mitochondrialdisease insights from @cvasilescu.bsky.social in this week's @biomednews.bsky.social curation. Check it out!
#mitoscientists #UMDF #mtDNA #mitochondrialtransplantation
#mitoscientists #UMDF #mtDNA #mitochondrialtransplantation
How can mitophagy be an effective quality control mechanism if mtDNA mutations reach high enough levels to cause disease?
This question led us into a dark path, full of concepts of evolutionary genetics, germline stem cell biology and mito-nuclear compatibility.
www.science.org/doi/10.1126/...
This question led us into a dark path, full of concepts of evolutionary genetics, germline stem cell biology and mito-nuclear compatibility.
www.science.org/doi/10.1126/...
Ubiquitin-mediated mitophagy regulates the inheritance of mitochondrial DNA mutations
Mitochondrial synthesis of adenosine triphosphate is essential for eukaryotic life but is dependent on the cooperation of two genomes: nuclear and mitochondrial DNA (mtDNA). mtDNA mutates ~15 times as...
www.science.org
October 10, 2025 at 8:45 AM
How can mitophagy be an effective quality control mechanism if mtDNA mutations reach high enough levels to cause disease?
This question led us into a dark path, full of concepts of evolutionary genetics, germline stem cell biology and mito-nuclear compatibility.
www.science.org/doi/10.1126/...
This question led us into a dark path, full of concepts of evolutionary genetics, germline stem cell biology and mito-nuclear compatibility.
www.science.org/doi/10.1126/...
mtDNA deletions cause incurable diseases. Our CRISPR screen found a fix: deleting MTERF1 restores mitochondrial function, not by clearing bad genomes, but by making the healthy ones work harder. Simple Biology! New preprint 👇 @tatakavlashvili.bsky.social www.biorxiv.org/content/10.6...
MTERF1 loss buffers against pathogenic mtDNA deletions through transcriptional regulation
Large-scale mitochondrial DNA (mtDNA) deletions cripple oxidative phosphorylation once they exceed a critical heteroplasmy threshold, causing incurable mitochondrial pathologies. Using a genome-wide C...
www.biorxiv.org
July 17, 2026 at 7:31 PM
mtDNA deletions cause incurable diseases. Our CRISPR screen found a fix: deleting MTERF1 restores mitochondrial function, not by clearing bad genomes, but by making the healthy ones work harder. Simple Biology! New preprint 👇 @tatakavlashvili.bsky.social www.biorxiv.org/content/10.6...
It was wonderful to see the NEJM paper today about healthy babies born free of mtDNA disease following mitochondrial donation. Built on decades of work led by Doug Turnbull and his team in Newcastle.
www.nejm.org/doi/full/10....
www.nejm.org/doi/full/10....
Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease | NEJM
Children born to women who carry pathogenic variants in mitochondrial DNA (mtDNA) are at risk for a range of clinical syndromes collectively known as mtDNA disease. Mitochondrial donation by pronuc...
www.nejm.org
July 17, 2025 at 7:07 AM
It was wonderful to see the NEJM paper today about healthy babies born free of mtDNA disease following mitochondrial donation. Built on decades of work led by Doug Turnbull and his team in Newcastle.
www.nejm.org/doi/full/10....
www.nejm.org/doi/full/10....
#MitochondrialDisease selection of papers from #week29! 📚
biomed.news/bims-mitdis/...
@biomednews.bsky.social @gavinmcstay.bsky.social @mitoscientist.bsky.social @mitoscientists.bsky.social
Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease
www.nejm.org/doi/full/10....
biomed.news/bims-mitdis/...
@biomednews.bsky.social @gavinmcstay.bsky.social @mitoscientist.bsky.social @mitoscientists.bsky.social
Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease
www.nejm.org/doi/full/10....
Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease | NEJM
Children born to women who carry pathogenic variants in mitochondrial DNA (mtDNA)
are at risk for a range of clinical syndromes collectively known as mtDNA disease.
Mitochondrial donation by pronuc...
www.nejm.org
July 20, 2025 at 11:30 AM
#MitochondrialDisease selection of papers from #week29! 📚
biomed.news/bims-mitdis/...
@biomednews.bsky.social @gavinmcstay.bsky.social @mitoscientist.bsky.social @mitoscientists.bsky.social
Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease
www.nejm.org/doi/full/10....
biomed.news/bims-mitdis/...
@biomednews.bsky.social @gavinmcstay.bsky.social @mitoscientist.bsky.social @mitoscientists.bsky.social
Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease
www.nejm.org/doi/full/10....
New work describes our efforts to achieve CRISPR editing of the mitochondrial genome.
www.biorxiv.org/lookup/conte...
www.biorxiv.org/lookup/conte...
Towards CRISPR-based editing of the mitochondrial genome in yeast
Mitochondria, which evolved from symbiotic bacteria, possess their own genomes (mtDNA) and support independent transcription and translation within the organelle. Given the essential role of mtDNA in ...
www.biorxiv.org
December 10, 2025 at 4:18 PM
New work describes our efforts to achieve CRISPR editing of the mitochondrial genome.
www.biorxiv.org/lookup/conte...
www.biorxiv.org/lookup/conte...
One of my favourite videos that deserves to be here also. Mitochondria and mtDNA on the move!
November 15, 2024 at 9:26 AM
One of my favourite videos that deserves to be here also. Mitochondria and mtDNA on the move!
Temporal control of mitochondrial mutagenesis reveals the fate of mtDNA mutations with age
www.biorxiv.org/content/10.6...
www.biorxiv.org/content/10.6...
Temporal control of mitochondrial mutagenesis reveals the fate of mtDNA mutations with age
Mutations in the mitochondrial genome (mtDNA) play a critical role in the aging process and a wide variety of age-related diseases. However, it remains unclear when the mutations that drive physiologi...
www.biorxiv.org
September 28, 2026 at 2:54 PM
Temporal control of mitochondrial mutagenesis reveals the fate of mtDNA mutations with age
www.biorxiv.org/content/10.6...
www.biorxiv.org/content/10.6...
I wish I could be on Airforce 1 to ask him: tRump, what do you think about this DNA SCIENCE ASSHOLE?
Mitochondrial Eve," 1 single woman in Africa whom all living humans can trace their direct maternal ancestry. Her mitochondrial DNA (mtDNA) is the common ancestor of all human mtDNA lineages today.
Mitochondrial Eve," 1 single woman in Africa whom all living humans can trace their direct maternal ancestry. Her mitochondrial DNA (mtDNA) is the common ancestor of all human mtDNA lineages today.
December 13, 2025 at 4:20 AM
I wish I could be on Airforce 1 to ask him: tRump, what do you think about this DNA SCIENCE ASSHOLE?
Mitochondrial Eve," 1 single woman in Africa whom all living humans can trace their direct maternal ancestry. Her mitochondrial DNA (mtDNA) is the common ancestor of all human mtDNA lineages today.
Mitochondrial Eve," 1 single woman in Africa whom all living humans can trace their direct maternal ancestry. Her mitochondrial DNA (mtDNA) is the common ancestor of all human mtDNA lineages today.
Breakthrough in mitochondrial disorders therapy and structural biology by @mito-at-gu.bsky.social! PZL-A a small molecule activator of mtDNA synthesis, restores mutant POLG. Cryo-EM reveals its binding mode, explaining boosted processivity & mtDNA recovery in cells. Step toward treating mt-disorders
April 9, 2025 at 8:36 PM
Breakthrough in mitochondrial disorders therapy and structural biology by @mito-at-gu.bsky.social! PZL-A a small molecule activator of mtDNA synthesis, restores mutant POLG. Cryo-EM reveals its binding mode, explaining boosted processivity & mtDNA recovery in cells. Step toward treating mt-disorders
Genealogist explores mtDNA and discovers his indigenous ancestry. Mtdna explained in laymen's language. New data via archeological digs in the Caribbean. It's a tutorial for beginning to expert genealogists.
March 15, 2025 at 2:18 AM
Genealogist explores mtDNA and discovers his indigenous ancestry. Mtdna explained in laymen's language. New data via archeological digs in the Caribbean. It's a tutorial for beginning to expert genealogists.
Fewer genetic studies have been completed on Central & S. American pumas than N. American pumas. However, mtDNA sequencing has shown that Central & S. American pumas form distinct groups and that N. American pumas are genetically homogenous. #2025MMM doi.org/10.3109/1940...
March 28, 2025 at 12:30 AM
Fewer genetic studies have been completed on Central & S. American pumas than N. American pumas. However, mtDNA sequencing has shown that Central & S. American pumas form distinct groups and that N. American pumas are genetically homogenous. #2025MMM doi.org/10.3109/1940...
Hey blue skies- We have updated our latest #BioRxiv paper-
We found that #mitochondria in #plants without mtDNA move and connect differently to those with mtDNA!
Now featuring two different methods of measuring mtDNA and mitochondrial motility.
Check it out: www.biorxiv.org/content/10.1...
We found that #mitochondria in #plants without mtDNA move and connect differently to those with mtDNA!
Now featuring two different methods of measuring mtDNA and mitochondrial motility.
Check it out: www.biorxiv.org/content/10.1...
November 15, 2024 at 9:40 AM
Hey blue skies- We have updated our latest #BioRxiv paper-
We found that #mitochondria in #plants without mtDNA move and connect differently to those with mtDNA!
Now featuring two different methods of measuring mtDNA and mitochondrial motility.
Check it out: www.biorxiv.org/content/10.1...
We found that #mitochondria in #plants without mtDNA move and connect differently to those with mtDNA!
Now featuring two different methods of measuring mtDNA and mitochondrial motility.
Check it out: www.biorxiv.org/content/10.1...