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Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy
Author(s) -
Marsan E.,
Baulac S.
Publication year - 2018
Publication title -
neuropathology and applied neurobiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.538
H-Index - 95
eISSN - 1365-2990
pISSN - 0305-1846
DOI - 10.1111/nan.12463
Subject(s) - cortical dysplasia , pi3k/akt/mtor pathway , autophagy , hyperactivation , hemimegalencephaly , mechanistic target of rapamycin , somatic cell , biology , neuroscience , rptor , sirolimus , megalencephaly , dysplasia , cancer research , cell growth , epilepsy , signal transduction , microbiology and biotechnology , genetics , gene , apoptosis , biochemistry
Over the last decade, there has been increasing evidence that hyperactivation of the mechanistic target of rapamycin (mTOR) pathway is a hallmark of malformations of cortical development such as focal cortical dysplasia (FCD) or hemimegalencephaly. The mTOR pathway governs protein and lipid synthesis, cell growth and proliferation as well as metabolism and autophagy. The molecular genetic aetiology of mTOR hyperactivation has only been recently clarified. This article will review the current and still evolving genetic advances in the elucidation of the molecular basis of FCD. Activating somatic mutations in the MTOR gene are to date the most frequent mutations found in FCD brain specimens.