SLPOtherMolecular autism2020

Pharmacological intervention to restore connectivity deficits of neuronal networks derived from ASD patient iPSC with a TSC2 mutation.

Mouhamed Alsaqati, Vivi M Heine, Adrian J Harwood

PMID 33076974

WHAT IT FOUND

Neurons from one TSC2 patient showed high excitability but poor network synchronisation.

Rapamycin lowered excitability but did not fix the network. A ULK1 activator restored synchronisation in the dish, suggesting a new target for TSC-related brain issues.

Key findings

01TSC2 patient neurons exhibited increased spontaneous firing rates and burst numbers compared to controls, but a significant reduction in synchronised burst frequency.

02Chronic or short-term treatment with rapamycin decreased neuronal hyperexcitability but failed to improve network synchronicity or connectivity.

03Treatment with the ULK1 activator LYN-1604 significantly increased synchronised bursts to control levels and improved neuronal spatial connectivity.

STILL TO COME

How it was doneWhat they foundWhat it means for SLPs

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What it does not show

The findings are based on neurons derived from a single patient, so they may not represent the broader TSC2 population. The study was conducted entirely in a dish (in vitro); it does not demonstrate clinical improvement in patients. The exact mechanism of how LYN-1604 restores connectivity in a living brain is unknown. Data distribution was assumed to be normal but not formally tested.

Declared interests

The authors declared no competing interests. The work was supported by non-US government funding.

The easy way to misread this

Do not interpret the restoration of network synchronicity in the dish as evidence that LYN-1604 is a ready-made treatment for autism or TSC. This is a pre-clinical study using neurons from one patient; the drug has not been tested for safety or efficacy in humans for this purpose.

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