From mTOR to Cognition: Molecular and Cellular Mechanisms of Cognitive Impairments in Tuberous Sclerosis

Autor/inn/en	Ehninger, D.; de Vries, P. J.; Silva, A. J.
Titel	From mTOR to Cognition: Molecular and Cellular Mechanisms of Cognitive Impairments in Tuberous Sclerosis
Quelle	In: Journal of Intellectual Disability Research, 53 (2009) 10, S.838-851 (14 Seiten)Infoseite zur Zeitschrift PDF als Volltext Verfügbarkeit
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	0964-2633
DOI	10.1111/j.1365-2788.2009.01208.x
Schlagwörter	Epilepsy; Mental Retardation; Seizures; Pathology; Etiology; Diseases; Molecular Structure; Neurological Impairments; Genetic Disorders; Animals; Cognitive Ability; Developmental Delays; Symptoms (Individual Disorders); Psychiatry + Suchen Sie Ihr Suchwort? Epilepsie; Geistige Behinderung; Anfallsleiden; Pathologie; Ätiologie; Disease; Krankheit; Neurodegenerative Erkrankung; Animal; Tier; Tiere; Denkfähigkeit; Entwicklungsverzögerung; Psychiatrische Symptomatik; Psychiatrie
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. (As Provided).
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Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2017/4/10