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

Victoria-Elisabeth GruberJudith LangVerena EndmayrRobert DiehmBirgit PimpelSarah GlatterJasper J AninkAnika BongaartsMark J LuinenburgRoy J ReintenNicole van der WelPer LarsenJohannes A HainfellnerKarl RösslerEleonora AronicaTheresa SchollAngelika MühlebnerMartha Feucht

Published in: Neuropathology and applied neurobiology (2021)

Results obtained in patient-derived primary oligodendroglial and TSC2 knock-out cells suggest that maturation of oligodendroglia and production of a proper myelin sheath seem to be impaired as a result of mTOR pathway disturbance. Hence, oligodendroglial pathology may reflect a more direct effect of the abnormal genetic programme rather than to be an inactive bystander of chronic epilepsy.

Keyphrases

induced apoptosis
white matter
cell cycle arrest
cell proliferation
genome wide
copy number
randomized controlled trial
clinical trial
multiple sclerosis
drug induced
double blind