Genetic interactions (GIs) occur when mutations in multiple genes combine to
generate an unexpected phenotype, and aid in our understanding of genotype-to-phenotype
relationships in both health and disease. Barth Syndrome (BTHS) is an X-linked recessive
syndrome caused by mutations in the gene TAZ, which encodes a highly conserved mitochondrial
acyltransferase (Tafazzin) involved in cardiolipin biogenesis. There is extreme variability
observed in Barth Syndrome patients, even though one known gene is responsible for this disease,
suggesting that there are modifier genes or additional variants of TAZ that could be involved.
Interestingly, very little is currently known about the TAZ gene and the spectrum of functions
it may be involved with in the cell. We are generating the first GI profile of the TAZ gene and,
in parallel, a comprehensive reference GI network of mitochondria-related genes in human cells,
exploring relevant disease alleles and GIs involved in both physiological and pathological
conditions. Together, these data will contribute to the human GI network project, and further
our understanding of both the TAZ gene and mitochondrial function.