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Biology subjects

Mok, J.

Publications and source records attributed to Mok, J..

2 recordsLinked to original sources

In vitro-reconstituted Drosophila Arc capsids deliver gene editors to dystrophic muscle

The intracellular delivery of therapeutic macromolecules remains a major challenge in biomedicine. Here we reconstitute the Drosophila melanogaster Arc1 (dArc1) retroelement-derived capsid entirely from purified recombinant protein components and in vitro transcribed RNA, creating a fully defined, cell-free assembled protein nanoparticle system. Through affinity engineering of the dArc1 RNA-binding domain, we enable efficient encapsulation of mRNA payloads and Cas9 ribonucleoproteins. Unexpectedly, we discover that dArc1 capsids bind mammalian cells through a direct interaction with the surface receptor SORCS2. Leveraging this interaction, we show that intramuscular injection of dArc1 capsids carrying Cas9 gene editors achieves up to 18% exon skipping and restores dystrophin expression in muscle fibers of mdx mice, a model of Duchenne muscular dystrophy. Enhanced delivery efficiency in regenerating and dystrophic muscle correlates with upregulated SORCS2 expression, supporting our finding that SORCS2 facilitates cellular uptake of dArc1 capsids. This work demonstrates the potential of in vitro-assembled protein nanoparticles for delivery of molecular cargoes.

molecular biology↗

The landscape of selection in 551 Esophageal Adenocarcinomas defines genomic biomarkers for the clinic

Esophageal Adenocarcinoma (EAC) is a poor prognosis cancer type with rapidly rising incidence. Our understanding of genetic events which drive EAC development is limited and there are few molecular biomarkers for prognostication or therapeutics. We have accumulated a cohort of 551 genomically characterised EACs (73% WGS and 27% WES) with clinical annotation and matched RNA-seq. Using a variety of driver gene detection methods, we discover 77 EAC driver genes (73% novel) and 21 non-coding driver elements (95% novel), and describe mutation and CNV types with specific functional impact. We identify a mean of 4.4 driver events per case derived from both copy number events and mutations. We compare driver mutation rates to the exome-wide mutational excess calculated using Non-synonymous vs Synonymous mutation rates (dNdS). We observe mutual exclusivity or co-occurrence of events within and between a number of EAC pathways (GATA factors, Core Cell cycle genes, TP53 regulators and the SWI/SNF complex) suggestive of important functional relationships. These driver variants correlate with tumour differentiation, sex and prognosis. Poor prognostic indicators (SMAD4, GATA4) are verified in independent cohorts with significant predictive value. Over 50% of EACs contain sensitising events for CDK4/6 inhibitors which are highly correlated with clinically relevant sensitivity in a panel EAC cell lines and organoids.

cancer biology↗