Yaxin Liu, a third-year PhD student in Biochemistry and Molecular Biology, has been awarded a two-year American Heart Association pre-doctoral fellowship to support her research.
Yaxin studies how mutations in an essential protein in mitochondria – organelles that power our cells – may cause certain heart and muscle diseases.
The protein, adenine nucleotide translocase (Ant), helps exchange adenosine triphosphate molecules and adenosine diphosphate molecules across the mitochondrial inner membrane. Exported adenosine triphosphate supplies the energy for most biological processes.
Ant also regulates cell death and controls the efficiency of energy coupling by mediating the unproductive leakage of protons across the inner membrane.
Using yeast and cultured human cells, Yaxin will try to determine how mutations in Ant1 lead to diseases such as cardiomyopathy, in which the heart muscle becomes enlarged and then weakens.
She will test the hypothesis that pathogenic variants of Ant1 may cause membrane stress by a mechanism likely unrelated to its nucleotide transport activity.
“The heart puts a high demand on cellular energy and cardiomyocytes are very sensitive to metabolic changes and other stresses,” Yaxin said. “If anything goes wrong with mitochondria, it has a more severe impact on cardiac function.”
Her work in the Chen lab will attempt to unravel how the mutant Ant1 causes mitochondrial stress, and provide a basis for developing therapeutic drugs for cardiomyopathy and other Ant1-related diseases.
Mitochondrial dysfunction is also associated with aging-related neuromuscular degenerative diseases, Yaxin said, but how this happens isn’t clear. The study of Ant1 could help better understand how mitochondrial dysfunction induces cellular degeneration during aging.
“I feel like our work can play an important role,” she said. “My Principal Investigator (Dr. Chen) has a personal passion for this work. He is very helpful and always available so I can go discuss my experiments with him.”
Yaxin presented a poster of her research project – “Mechanism of Mitochondrial Damage Caused by Mutant Adenine Nucleotide Translocase” — at Upstate’s Student Research Celebration in April. A month later, she learned of her fellowship, which provides $21,000 of support each of the two years.