In 2014, mutations in a gene called CHCHD10 were newly identified as a genetic cause of ALS. Later, in 2018, co-recipient Dr. Eric Shoubridge discovered that the role of CHCHD10 in ALS is connected to another protein, called CHCHD2.
The exact way in which mutations in CHCHD10 and its interaction with CHCHD2 lead to motor neuron loss in ALS is yet to be fully understood. However, preliminary data suggest that these mutations may lead to impaired functioning of mitochondria, structures within cells that provide the energy the cell needs to survive.
With this grant, Dr. Gary Armstrong, an ALS zebrafish expert, will collaborate with Dr. Shoubridge, a world-renowned mitochondrial expert, to better understand the roles of CHCHD10 and CHCHD2 in ALS. Using patient cells and zebrafish models in the laboratory, Dr. Armstrong will explore the biological pathways impaired by mutations in CHCHD10 that ultimately lead to the neurodegeneration seen in ALS.
This project provides a unique opportunity to study the function of both proteins, as well as the role they play in ALS, and the results could lead the way to identify new treatment targets for the disease.