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TITLE

Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy

SPEAKER

Dr. Katie Miller

INSTITUTE

Nationwide Children’s Hospital

SUMMARY

In this webinar, Dr. Katie Miller will discuss their recent paper titled "Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy" https://www.nature.com/articles/s41588-023-01547-z. The study suggests that pre-zygotic aneuploidy followed by post-zygotic partial reversion leads to a recurrent form of brain mosaicism-related epilepsy. Specifically, we studied six children with focal epilepsy and mosaic chromosome 1q copy number gain in brain tissue. Genomic analysis showed evidence of an extra, parentally-derived chromosome 1q in five of six patient brain tissues, which was not present in blood or buccal tissue – as evidenced by high-depth targeted sequencing of residual DNA using a single-stranded DNA library preparation method. This gain was notably enriched in astrocytes, which also exhibited unique gene expression patterns and hyaline inclusions, suggesting a new genetic link to astrocytic abnormalities in epilepsy. The findings highlight an unconventional mechanism of brain mosaicism, with the chr1q gain restricted to the brain, potentially indicating developmental rescue in other tissues.

Dr. Miller is a principal investigator in the Institute for Genomic Medicine at Nationwide Children’s Hospital and an Assistant Professor of Pediatrics at The Ohio State University College of Medicine. Dr. Miller leads a research lab whose efforts focus on the characterization of pediatric disease-involved tissues, using state-of-the-art technologies including transcriptome sequencing, single cell RNA-sequencing, and spatial multiplex protein profiling.

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