These are great sessions with really knowledgeable speakers! @londonmito.bsky.social @mitonewcastle.bsky.social
This article discusses emerging therapeutic approaches for mtDNA-related diseases, including gene therapy and mtDNA editing, small molecules, reproductive strategies, and mitochondrial transplantation.
We are delighted to share a new open-access study by Dr Micol Falabella & colleagues, published in @natcomms.nature.com Nature Communications: "COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy"
Paper: www.nature.com/articles/s41...
Congratulations to Rubing Shi, Micol Falabella, Jana Aref, Michael G. Hanna, @mitogene.bsky.social, Carlo Viscomi, and @robpitceathly.bsky.social for bringing this review together.
@uclqsion.bsky.social @uclqsneuromuscular.bsky.social
This study reports the largest genetically confirmed cohort of COXFA4-related primary #mitochondrial disease to date and finds that COXFA4L2 upregulation preserves residual complex IV activity in the absence of #COXFA4, revealing a compensatory mechanism with #translational potential.
We are pleased to share a new review published in Cell Reports Medicine @cellpress.bsky.social: “Emerging therapeutic strategies for mitochondrial DNA-related diseases”
Full article: doi.org/10.1016/j.xc...
#Mitochondria #mtDNA #GeneTherapy #GenomeEditing #RareDiseases #TranslationalMedicine
Congratulations to Micol, @robpitceathly.bsky.social and all authors and collaborators involved in this work (please tag yourself or let us know your handle so we can include you here!).
@uclqsion.bsky.social @uclqsneuromuscular.bsky.social @mitonewcastle.bsky.social
