Impaired myelin production due to an intrinsic failure of oligodendrocytes in mTORpathies.

ABSTRACT:

Aims

We aim to evaluate if the myelin pathology observed in epilepsy-associated focal cortical dysplasia type 2B (FCD2B) and-histologically indistinguishable-cortical tubers of tuberous sclerosis complex (TSC) is primarily related to the underlying malformation or constitutes a secondary phenomenon due to the toxic microenvironment created by epileptic seizures. We also aim to investigate the possible beneficial effect of the mTOR pathway regulator everolimus on white matter pathology.

Methods

Primary mixed glial cell cultures derived from epilepsy surgery specimens of one TSC and seven FCD2B patients were grown on polycaprolactone fibre matrices and analysed using immunofluorescence and electron microscopy. Unaffected white matter from three age-matched epilepsy patients wi

SUBMITTER: Gruber VE 

PROVIDER: S-EPMC8518586 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature