Phenotypes associated with inherited and developmental somatic mutations in genes encoding mTOR pathway components

Saxena, Anurag and Sampson, Julian ORCID: https://orcid.org/0000-0002-2902-2348 2014. Phenotypes associated with inherited and developmental somatic mutations in genes encoding mTOR pathway components. Seminars in Cell and Developmental Biology 36 , pp. 140-146. 10.1016/j.semcdb.2014.09.018

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Abstract

Mutations affecting the genes that encode upstream components in the mammalian (or mechanistic) target of rapamycin signalling pathway are associated with a group of rare inherited and developmental disorders that show overlapping clinical features. These include predisposition to a variety of benign or malignant tumours, localized overgrowth, developmental abnormalities of the brain, neurodevelopmental disorders and epilepsy. Many of these features have been linked to hyperactivation of signalling via mammalian target of rapamycin complex 1, suggesting that inhibitors of this complex such as rapamycin and its derivatives may offer new opportunities for therapy. In this review we describe this group of inherited and developmental disorders and discuss recent progress in their treatment via mTORC1 inhibition.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Elsevier
ISSN:	1084-9521
Last Modified:	28 Oct 2022 10:29
URI:	https://orca.cardiff.ac.uk/id/eprint/78527

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