Benjamin · Proceedings of the National Academy of Sciences of the United States of America 2017 · preclinical animal intervention study · n=?

A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome.

Cited 143 times in the scientific literature.

Level 5 - mechanism / opinion, no new human data

Preclinical bench and animal research

PubMed 27999180 · doi:10.1073/pnas.1611431114 · record verified 2026-08-29

What was done

Researchers evaluated whether a ketogenic diet or exogenous administration of beta-hydroxybutyrate (an endogenous histone deacetylase inhibitor) could rescue neurogenesis and hippocampal memory defects in a mouse model of Kabuki syndrome (Kmt2d +/βGeo). Epigenetic histone modifications (H3ac and H3K4me3) in the granule cell layer of the dentate gyrus were also examined.

What was found

The abstract reports no numerical values, sample sizes, or quantitative effect sizes. Qualitatively, a ketogenic diet in Kmt2d +/βGeo mice modulated H3ac and H3K4me3 in the granule cell layer and rescued both neurogenesis deficits and hippocampal memory abnormalities; exogenous beta-hydroxybutyrate produced similar rescue effects on neurogenesis.

Why it matters

This provides proof-of-concept in an animal model that a dietary intervention elevating beta-hydroxybutyrate can modulate chromatin accessibility and reverse cognitive phenotypes associated with Mendelian intellectual disability syndromes.

Limits

The study was conducted entirely in mice, so findings may not translate directly to human patients. The abstract does not report animal sample sizes, treatment duration, or quantitative statistical results. It only evaluates Kmt2d mutations, leaving KDM6A-related Kabuki syndrome unassessed.

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