Project

Expanding the TDP-43 proteinopathy spectrum from the neuron to the muscle: a clinical, genetic, pathological and multi-omics study paving the way for new therapeutic strategies

Code
01CD6923
Duration
16 September 2023 → 15 September 2024
Funding
Regional and community funding: Special Research Fund
Research disciplines
  • Medical and health sciences
    • Neurological and neuromuscular diseases
Keywords
Neuromuscular disease ALS/FTD Myopathy
 
Project description
TDP43-protein aggregates in neurons are characteristic of some neurodegenerative disorders, and their causality is supported by genetics. Also in muscles of myopathy patients TDP43 aggregates are observed albeit with unclear causality. This project aims to find genetic evidence for these inclusions' causal role. In addition, it aims to understand how mutations lead to neurodegeneration on the one hand and myopathies on the other hand.