Knockout of Tmlhe in mice is not associated with autism spectrum disorder phenotypes or motor dysfunction despite low carnitine levels.
Edgars Liepinsh, Baiba Svalbe, Gundega Stelfa and 4 others
PMID 37553674WHAT IT FOUND
Mice with a genetic knockout causing extremely low carnitine levels showed no autism-like behaviors or motor deficits.
Grip strength, coordination, and cognitive tests were identical to wild-type mice, suggesting low carnitine alone does not drive these phenotypes.
Key findings
01Tmlhe-KO mice had significantly lower carnitine levels in plasma and brain tissue compared to wild-type mice.
02Despite low carnitine, Tmlhe-KO mice performed similarly to wild-type mice in social, motor, and cognitive tests.
03The knockout did not induce an ASD phenotype or motor dysfunction.
STILL TO COME
How it was doneWhat they found
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What it does not show
The study was conducted in mice, and human patients may be more sensitive to low carnitine levels. The results suggest that carnitine deficiency alone is not sufficient to cause ASD or motor phenotypes, implying other factors are involved. The study did not test therapeutic interventions or outcomes in humans.
Declared interests
Funded by Horizon 2020 and Latvijas Zinātnes Padome. No specific conflicts of interest regarding commercial entities were declared in the provided text.
The easy way to misread this
Do not assume this means carnitine deficiency is harmless in humans. The study shows it does not cause ASD or motor deficits in mice, but human symptoms are highly variable and can be severe.