1H-NMR-based metabolomics reveals metabolic alterations in early development of a mouse model of Angelman syndrome.
Pooja Kri Gupta, Sharon Barak, Yonatan Feuermann and 2 others
PMID 39049050WHAT IT FOUND
In male mouse embryos that model Angelman syndrome, brain levels of acetate, lactate and succinate were higher than in controls at day 16.5.
This is an early mouse brain finding, not evidence for human therapy.
Key findings
01Metabolite profiles from the embryonic mouse brains separated Angelman model samples from control samples.
02After correction for multiple comparisons, acetate, lactate and succinate remained significantly elevated in Angelman model samples.
03Lactate had the largest reported fold change (1.82), followed by acetate and succinate (1.65 each).
STILL TO COME
How it was doneWhat they found
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What it does not show
The study was done in mouse embryos, not in people with Angelman syndrome. It used whole embryonic brains, so it could not show which brain regions or cell types were responsible. Only 14 metabolites were analysed because peaks that overlapped with other peaks were left out. The sample was small (6 embryos per genotype), and the authors noted that a larger sample might have found additional significant metabolites. The finding describes a metabolic difference, not a tested treatment or clinical outcome.
Declared interests
The supplied text does not include a full author conflict statement. The article is labelled as supported by non-U.S. government research funding.
The easy way to misread this
Do not read the higher acetate, lactate and succinate as a human biomarker or a treatment target. The study measured mouse embryonic brains and did not test therapy or patient symptoms.