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chihyao.bsky.social

@chihyao.bsky.social
15 followers 27 following 7 posts
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chihyao.bsky.social @chihyao.bsky.social · 10/10/2026
Here is the preprint: www.biorxiv.org/content/10.6... I hope you enjoy reading the paper, as we enjoyed doing this research!
biorxiv.org
Random mtDNA mutagenesis maps genotype-phenotype associations across metabolic contexts and lineages
Mitochondrial DNA (mtDNA) mutations cause inherited disease, accumulate with age, and recur in tumors, yet their effects remain unresolved because existing models interrogate one engineered allele at ...
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chihyao.bsky.social @chihyao.bsky.social · 10/10/2026
We further collaborated with amazing colleagues, Agnel sfeir and Ron Baik, at Memorial Sloan Kettering Cancer Center, on the human RPE1 cell model. In a nutshell, we established a forward genetic tool for mtDNA to map genotype-phenotype associations across metabolic contexts and lineages.
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chihyao.bsky.social @chihyao.bsky.social · 10/10/2026
Bringing this idea, I joined the lab of Alexander van Oudenaarden, working with fantastic colleagues, Amir Giladi and Josi Peterson. We successfully generated mtDIVE to introduce random mtDNA mutations in zebrafish embryos and mapped genotypes to phenotypes using single-cell sequencing!!!
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chihyao.bsky.social @chihyao.bsky.social · 10/10/2026
My first step in tackling these questions is to write a review article (PMID: 34836781) with my PhD supervisor (Prof Michael Duchen). Later, when I saw people edited mtDNA for the first time, a crazy idea came to my mind - why not introduce random mutations in mtDNA?
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chihyao.bsky.social @chihyao.bsky.social · 10/10/2026
I gradually became interested in why certain mutations are more penetrant, why variation in clinical presentation is so large, and how different tissue types respond to mtDNA mutations, ultimately shaping the mutation landscape.
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chihyao.bsky.social @chihyao.bsky.social · 10/10/2026
The story started in the late stage of my PhD study at CDB UCL. During my PhD, I studied a specific human pathogenic mtDNA mutation (m.3243A>G) and how manipulating cell signalling pathways affects the balance between WT and mutant mtDNA (PMID: 34737295, PMID: 39667405).
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Reposted by @chihyao.bsky.social
Olivia Gillham @neuroliv.bsky.social · 27/05/2026
Beautiful work into Vici Syndrome from @kritsh.bsky.social, investigating how pathogenic variants in EPG5 drive neurodegeneration through mitochondrial dysfunction and innate immune activation. @gabbov.bsky.social @chihyao.bsky.social @natcomms.nature.com www.nature.com/articles/s41...
nature.com
Pathogenic variants in the autophagy-tethering factor EPG5 drive neurodegeneration through mitochondrial dysfunction and innate immune activation - Nature Communications
Mutations in the autophagy protein EPG5 cause multisystem disease, including neurodegeneration. This study shows that impaired mitophagy drives mitochondrial Ca2+ overload with permeability transition...
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chihyao.bsky.social @chihyao.bsky.social · 18/12/2025
Happy to be invited to write a small piece of commentary on a recent published paper in Scienc, showing the USP30 inhibition restotes mitophagy during mouse embryonic development, reducing a pathogenic mtDNA mutation. authors.elsevier.com/c/1mIAf8jWWJ...
authors.elsevier.com
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Reposted by @chihyao.bsky.social
Hubrecht Institute @hubrechtinstitute.bsky.social · 10/07/2025
🧬 Looking for a PhD position in molecular or developmental biology? 🔬 ✉️ The Hubrecht Institute now has its very own PhD program! Applications are open and will be accepted until September 15th. Read more here 👉 www.hubrecht.eu/hipp/
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Reposted by @chihyao.bsky.social
#NeuroDegeneration preprints @prepub-neurodegen.bsky.social · 29/05/2025
Pathogenic variants in autophagy-tethering factor EPG5 drive neurodegeneration through mitochondrial dysfunction and innate immune activation #NeuroDegeneration 🧪🧠 www.biorxiv.org/content/10.1101/202…
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Reposted by @chihyao.bsky.social
Gabriel Esteban Valdebenito @gabbov.bsky.social · 13/12/2024
Inhibition of the PI3K-AKT-MTORC1 axis reduces the burden of the m.3243A>G mtDNA mutation by promoting mitophagy and improving mitochondrial function www.tandfonline.com/doi/full/10....
tandfonline.com
Inhibition of the PI3K-AKT-MTORC1 axis reduces the burden of the m.3243A>G mtDNA mutation by promoting mitophagy and improving mitochondrial function
Mitochondrial DNA (mtDNA) encodes genes essential for oxidative phosphorylation. The m.3243A>G mutation causes severe disease, including myopathy, lactic acidosis and stroke-like episodes (MELAS) a...
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