Date: Tuesday 28th November 2024
Time: 12.30 – 13.30
Title: Neurodevelopmental causes of mTOR pathway diseases
Speaker: Dr Joseph Bateman, BSc, PhD, PGCAP, Kings College London
Abstract: Mechanistic target of rapamycin (mTOR) is a highly conserved serine/threonine kinase that regulates key anabolic cellular processes including cell growth, autophagy and metabolism. Genetic mutations leading to hyperactivation of the mTOR pathway cause a group of rare and ultrarare genetic diseases with clinical manifestations including intellectual disability, epilepsy and autism. We are interested in understanding how mTOR pathway hyperactivation causes these neurological manifestations. To achieve this, we have identified novel downstream targets of the mTOR pathway in the developing nervous system. We use Drosophila, mouse and human cellular models to study the regulation of these novel targets by mTOR signalling. Recently, we have performed an unbiased screen for mTOR targets in the developing mouse brain using phosphoproteomics. We have also characterised the phosphoproteome in brain tissue from patients with the mTOR pathway disease Tuberous Sclerosis Complex. These analyses have identified novel mTOR targets in the brain, many of which are mutated in rare neurodevelopmental disorders. Finally, I will discuss the mTOR Pathway Diseases node, part of the NIHR/MRC Rare Disease Research Platform, and how the mTOR node aims to improve the understanding, diagnosis and treatment of mTOR pathway diseases.
Location: St Mary’s Hospital, Manchester M13 9NQ
Cost: Free
Registration: If you would like to attend this lunchtime seminar session, please contact: mrcc@mft.nhs.uk