The role of the stress kinase MLTK7 in muscle disease

MAPK (mitogen activated protein kinase) signaling has been recently implicated
in a rare muscle recessive disorder in several unrelated families, providing the
first example of a direct association between a mixed lineage kinase and a
skeletal muscle disease (PMID: 27816943). The pathogenic mechanisms of this
disease or indeed the functions of MLTK7 in skeletal muscle are currently
unknown. The overall objective of this PhD is to characterize the role of MLTK7
in a mouse model of muscle disease using a range of techniques encompassing
pathology, biochemical analysis of the MLTK7 pathway, overexpression in vivo
to show the results of pathway upregulation, RNAseq and proteomics profiling.
This project will provide insights into the cellular processes contributed to by the
MLTK7 signalling pathway and contribute to our understanding of the role of
MAPKs in the pathogenesis of skeletal muscle diseases.