Understanding the role of MTHFD1L in mitochondrial folate metabolism and human
Folate status is important for human health with suboptimal status associated with a range of diseases. An understanding of how folate status influences disease risk is gained by focusing on specific genes that participate in the transport and metabolism of folate. The folate gene, MTHFD1L, has recently emerged as a risk factor for a range of diseases including neural tube defects, cardiovascular disease and cancer. MTHFD1L is a folate enzyme that localises to the mitochondria but further elucidation of this enzyme is warranted to fully understand its role in disease risk. This project will use a number of molecular approaches to further investigate this enzyme, building on current research from the group.