Deoxynucleoside supplementation ameliorates the disease associated phenotypes in a zebrafish model of RRM2B mtDNA depletion syndrome
doi.org/10.1093/hmg/ddaf047
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/jobID:…
🧬 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…
This proof-of-concept study highlights that deoxynucleoside supplementation can mitigate RRM2B dysfunction in vivo. More challenges remain in bringing this to patients; determining effective delivery methods, combinations, and dosing of deoxynucleosides is vital!
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! 🐟
New study from us:
science.org/doi/10.1126/scia…
High mtDNA copy number promotes lung cancer growth in the mouse, whereas mtDNA depletion in tumor cells reduces tumor growth. This tumor-intrinsic role for mtDNA can be exploited for development of future lung cancer therapies.
🚨Mitochondrial research out🚨 Our latest work on the synergy between LRPPRC and SLIRP for maintaining mtDNA gene expression in vivo is now published! 🧬 Free-access link to the article: academic.oup.com/nar/article…
🚨Advance article alert - mutant PTPMT1 impairs cardiolipin metabolism causing human disease. Fantastic collaborative effort across several continents!
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome academic.oup.com/brain/artic…
New paper from us on the in vivo role of the LRPPRC/SLIRP protein complex and its crucial role in mammalian mtDNA gene expression:
academic.oup.com/nar/advance…
Congratulations @RubalDiana for great work! Thank you to all coauthors for a very nice collaboration.
BREAKING NEWS
The 2023 #NobelPrize in Chemistry has been awarded to Walter White for promoting an understanding of synthetic organic chemistry to the general public. This unprecedented selection is bound to spark controversy, but Walter is/was an undeniably inspiring figure...