The University of Queensland

Identifying genes that are regulated by TDP-43 and FUS using high-throughput sequencing (2011)

Abstract:

Genetic mutations associated with MND have been identified in both TDP-43 and FUS genes. Protein tangles that aggregate in affected nerve cells are a pathological hallmark of MND and studies of MND patient cells have demonstrated that both TDP-43 and FUS proteins are principal components of these nerve cell aggregates. TDP-43 and FUS are both involved in gene regulation. However, the gene targets of these two proteins in the nervous system are currently unknown and their role in the pathogenesis of MND remains unclear. The aim of this project is to identify genes that are regulated by the TDP-43 and FUS proteins. A recently developed mouse model will also allow us to specifically identify genes targets that are affected by MND-causing TDP-43 mutations. Gene targets of TDP-43 and FUS will be screened in MND patients. These studies will improve our understanding of what causes MND, identify potential biomarkers and new candidate MND genes, and provide rational targets for the future development of new therapies.

Grant type:

Motor Neurone Disease Research Institute of Australia Inc

Funded by:

Motor Neurone Disease Research Institute of Australia Inc