Mentors: Elizabeth Brooks DVM, Kate Ilich MD
PI: Dwight Koeberl MD PhD
The trifunctional protein is a mitochondrial protein that plays an important role in fatty acid oxidation. Deficiency of this protein is inherited in an autosomal recessive manner and causes cardiomyopathy, fat buildup, decreased muscle strength, and decreased lifespan. It is our lab’s hypothesis that gene therapy using an Adeno-Associated Virus (AAV) vector with a transgene will lead to increased expression of this protein in a HADHB knockout mouse model compared to untreated affected mice.
We tested our hypothesis by examining the disease phenotype and looking directly at protein expression. We looked at wire hang tests, fasted glucose tests, fasted glucose tolerance tests, survivability, and body weight to assess the physical condition of the mouse.
Our preliminarily data does not show dramatic phenotype correction; however, we await more data to see if statistically significant differences are seen. We plan to do a Western Blot to look for presence of TFP, and we await electrophysiology data concerning cardiac function which will be available at the conclusion of the study. We are optimistic about those results.
