Discoveries

Neurodegenerative diseases affect more than 57 million people globally. Though scientists know that aging is a major risk factor for neurodegenerative diseases, the mechanisms underlying its impact remain unclear. But a great place to start is epigenetic change—the way small chemical tags on top of our base genetic code shift over time to alter gene expression. Joseph Ecker, PhD, Margarita Behrens, PhD, and colleagues have created the most comprehensive single-cell atlas of epigenetic changes in the aging mouse brain to date. The new atlas represents eight brain regions and 36 distinct brain cell types, with more than 200,000 single cells profiled across methylation and chromatin conformation assays, plus nearly 900,000 cells captured with spatial transcriptomics. The contents have already revealed clear epigenetic differences across age groups and enabled the researchers to develop novel deep-learning models that predict age-related gene expression changes.

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Fragile X syndrome (FXS) is an inherited genetic developmental condition that strongly impacts brain development. Its symptoms are broad and highly variable, and there is currently no cure. Existing treatments are limited to medications and therapies to help manage symptoms. Nicola Allen, PhD, and team recently discovered how star-shaped brain cells called astrocytes contribute to some FXS symptoms. They found that a protein pathway commonly upregulated in FXS astrocytes could be suppressed to lessen those symptoms, meaning less severe seizures and restored molecular balances in a mouse model of FXS. The findings validate the importance of studying astrocytes in FXS research and represent a promising step toward future therapeutics for FXS and other developmental conditions, such as Down syndrome and Rett syndrome. 

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