The mitochondrial methylation potential gates mitoribosome assembly Nature Communications - Here, using long-read RNA sequencing, SILAC proteomics, and cryo-EM, the authors show that loss of mitochondrial methylation impairs rRNA processing and ribosome maturation,...

Excited to share our latest work on how mitochondrial methylation shapes gene expression. Using long-read RNAseq and cryo-EM, we uncover two methylation-dependent checkpoints in ribosome biogenesis.
Thanks to everyone invovled. @ruthicglasgow.bsky.social @amunts.bsky.social
🔗 rdcu.be/etk12

Postdoctoral studies in mitochondrial genetics (scholarship) Postdoctoral studies in mitochondrial genetics (scholarship) Do you want to contribute to improving human health? Join a leading research team dedicated to understanding how mutations of mitochondrial

We're looking for a postdoc! 🧑‍🔬 If you're interested in mitochondrial genetics, have a look below! 🧬🔬🥼
Feel free to ask any questions.

ki.varbi.com/what:job/job...

Big thanks to everyone involved, especially the animal technicians, and Declan, who spent a summer internship meticulously analyzing zebrafish touch-evoked escape response data.⁣ A very tedious (but vital!) part of the work! 🐟

This proof-of-concept study highlights that deoxynucleoside supplementation can mitigate RRM2B dysfunction in vivo. However, more challenges remain in bringing this to patients and determining effective delivery methods, combinations, and dosing of deoxynucleosides still needs to be established.⁣⁣

We subsequently establish that purine deoxynucleoside supplementation in Rrm2b KO larvae prevents mtDNA depletion, attenuates the movement defect and reduces elevated lactate levels⁣. This supports existing in vitro data that deoxynucleoside supplemention could treat RRM2B related MDDS.

In zebrafish🐟, kocking out Rrm2b causes impaired movement, mtDNA depletion & elevated lactate.⁣
Surprisingly, treating larvae with both purine & pyrimidine deoxynucleosides worsened mtDNA depletion, even in WT controls. Likely due to natural nucleotide pool asymmetries in developing zebrafish.

RRM2B mutations disrupt purine & pyrimidine deoxynucleotide pools essential for mtDNA replication and maintenance.⁣
This leads to mtDNA depletion & a severe encephalomyopathic form of MDDS in patients.⁣⁣

Deoxynucleoside supplementation ameliorates the disease associated phenotypes in a zebrafish model of RRM2B mtDNA depletion syndrome Abstract. Mitochondrial DNA (mtDNA) depletion syndromes (MDDS) are rare, clinically heterogeneous mitochondrial disorders resulting from nuclear variants i

🧬 New paper! We nudge the science forward surrounding deoxynucleoside supplementation & mitochondrial DNA depletion syndromes (MDDS).⁣
We show, for the first time in vivo, that deoxynucleoside supplementation can mitigate effects of RRM2B mutations.
🔗 academic.oup.com/hmg/advance-...

Small molecules restore mutant mitochondrial DNA polymerase activity - Nature An activator of DNA polymerase γ restores function to disease-causing mutant variants and demonstrates a potential route to treatments for inherited mitochondrial disorders involving POLG mutations.

New paper out from the Falkenberg and Gustafsson labs. Thanks to Pretzel for a successful collaboration.
www.nature.com/articles/s41...

DNA repair pathways in the mitochondria Mitochondria contain their own small, circular genome that is present in high copy number. The mitochondrial genome (mtDNA) encodes essential subunits…

How many times have you read that mitochondria has fewer DNA repair mechanisms that the nucleus? When was last time you checked it out?

DNA repair pathways in the mitochondria

Dillon King and William Copeland

The stage of the Erling Persson Hall auditorium in Alua Medica, Karolinska Institutet before the Nobel Lecture 2024

Gary Ruvkun, joint winner of the 2024 Nobel Prize in Physiology or Medicine, giving his Nobel Lecture.

Great to hear talks from this year's winners of the Nobel Prize in Physiology or Medicine, Gary Ruvkun and Victor Ambrose. Very inspiring! #nobelprize