Grant: CIHR Fellowship

Lysinuric protein intolerance (LPI) is a life-threatening inherited disease that can affect multiple organs and tissues in the body. LPI is caused by genetic variations in a gene called SLC7A7, which plays an important role in transporting specific amino acids from our diet in the body. Altered SLC7A7 function leads to a range of problems, like poor growth, elevated ammonia in the blood, immune system disorders, and reduced bone mass in children and young adults. The goal of my research is to investigate the cause of low bone mass in LPI. Specifically, I will test whether the function of osteoclasts, a type of cell that breaks down bone, is altered in a mouse model for LPI. If we confirm altered function of osteoclasts in these mice, my research findings will support the development of therapies targeting the osteoclasts for low bone mass in LPI. Additionally, the findings from my work will also shed light on the roles of amino acid transport and nutrition in osteoclasts and other bone cells, and these findings could have impacts on more common bone disorders.