The abstract is read at the publisher; the summary is JClub's.
Neural progenitors in the human HD fetal brain show the most differentially expressed genes, with synaptic pathway upregulation and reduced cell maintenance genes that persist into adult pathology.
- Why it matters: HD symptoms emerge in mid-adulthood despite mutant HTT expression from conception, and direct single-cell evidence for early, cell type-specific vulnerabilities in human fetal brain has been missing.
- What they did: Single-cell transcriptomics profiled the lateral ganglionic eminence and cortex in a rare anatomically intact human HD fetal brain and matched controls, then was cross-compared with an allelic series of HD mouse embryos and published adult post-mortem and organoid datasets.
- The result: Human HD progenitor transcriptional signatures are moderately enriched in developing mouse LGE and persist in publicly available adult post-mortem HD datasets, while cellular interactions mitigate these alterations, suggesting a potentially rescuable fetal-to-adult signature.
The findingWhy it mattersWhat they didThe result
AI summary of the abstract · may contain errors · not medical advice · read the paper.