Buildup of normally harmless enzyme stunts brain growth in mice with Angelman syndrome (opens in a new tab)

medicalxpress.com · 2026-10-21

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Buildup of normally harmless enzyme stunts brain growth in mice with Angelman syndrome

medicalxpress.com · 2026-10-21

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Also referencedpresented as the new finding
Persistent neuronal stress signalling underlies Angelman syndrome phenotypes
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Claim 1 of 4Not checkedAngelman syndrome is a rare disease with a single known cause: one missing maternal gene, associated with cognitive and mobility deficits that become evident in children around 6 months old.View evidenceHide evidence

As statedapproximately one in 20,000 births

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Claim 2 of 4Not checkedNew research from Jason Yi at Washington University in St. Louis found in mice that loss of UBE3A leads to accumulation of the enzyme asparagine synthetase in the brain, and this buildup appears to indirectly impair brain growth.View evidenceHide evidence

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Claim 3 of 4Not checkedThe study says elevated asparagine synthetase activated the brain's stress response in Angelman syndrome mice, and blocking production of the enzyme restored normal brain growth and behaviors in mice.View evidenceHide evidence

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Claim 4 of 4Not checkedThe article says the findings are the first time an increase in asparagine synthetase has been linked to a neurological condition, and that the work may suggest a possible medication target, though much remains unknown.View evidenceHide evidence

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