Cited by 120Tuberous Sclerosis Complex ResearchPI3K/AKT/mTOR signaling in cancerGenetics and Neurodevelopmental Disorders

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From mTOR to cognition: molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis

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Ehninger, D., De Vries, P. J., Silva, A. J.·2009·Journal of Intellectual Disability Research

DOI 10.1111/j.1365-2788.2009.01208.xPMC PMC2844770

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Abstract

Background Tuberous sclerosis (TSC) is a multi‐system disorder caused by heterozygous mutations in the TSC1 or TSC2 gene and is often associated with neuropsychiatric symptoms, including intellectual disability, specific neuropsychological deficits, autism, other behavioural disorders and epilepsy. Method Here, we review evidence from animal models of TSC for the role of specific molecular and cellular processes in the pathogenesis of cognitive, developmental and epilepsy‐related manifestations seen in the disorder. Results Recent evidence shows that, in animal models, disinhibited mTOR (mammalian target of rapamycin) signalling substantially contributes to neuropsychiatric phenotypes, including cognitive deficits and seizures. We discuss potential pathogenetic mechanisms involved in the cognitive phenotypes of TSC and present implications regarding mTOR inhibitor‐based treatments for TSC‐related neuropsychiatric features. Conclusions Results suggest that reversing the underlying molecular deficits of TSC with rapamycin or other mTOR inhibitors could result in clinically significant improvements of cognitive function and neurological symptoms, even if treatments are started in adulthood.

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Authors: Ehninger, D., De Vries, P. J., & Silva, A. J.
Affiliations: University of California, Los Angeles (US)
Corresponding author: Ehninger, D.
ORCID: Ehninger, D.
Silva, A. J.
Venue: Journal of Intellectual Disability Research
Publisher: Wiley
Published: 2009-09-25
Volume: 53
Issue: 10
Pages: 838-851
ISSN: 0964-2633 (ISSN-L)
1365-2788
DOI: 10.1111/j.1365-2788.2009.01208.x
PMC: PMC2844770
OpenAlex: W1981844658
Cited by: 120
References: 108
Citations by year: 2026: 3 · 2025: 4 · 2024: 1 · 2022: 5 · 2020: 3 · 2019: 2 · 2018: 5 · 2017: 6 · 2016: 8 · 2015: 8 · 2014: 9 · 2013: 9 · 2012: 24
FWCI: 2.09
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations: Journal of Intellectual Disability Research (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: National Institute of Neurological Disorders and Stroke (R01NS038480)
Topics: Health Sciences › Medicine › Genetics (clinical) › Tuberous Sclerosis Complex Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › PI3K/AKT/mTOR signaling in cancer
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords: tuberous sclerosis complex, mTOR signaling, cognitive impairment, intellectual disability, epilepsy, neuropsychiatric symptoms, TSC1, TSC2, rapamycin, mTOR inhibitors, animal models, autism spectrum disorder, developmental disorders
MeSH terms: Animals, Behavior, Animal, Carrier Proteins, Cognition, Cognition Disorders, Cell Biology, Disease Models, Animal, Epilepsy, Humans, Molecular Biology, Risk Factors, Tuberous Sclerosis, Phosphotransferases (Alcohol Group Acceptor), Mice, Rats, TOR Serine-Threonine Kinases

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From mTOR to cognition: molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis

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