Presentation description

Atrial Fibrillation (AF) is a cardiac arrhythmia characterized by an irregular heartbeat in the atria, which can cause stroke and other heart-related complications. Familial AF is an inherited type of AF that presents in an autosomal dominant inheritance pattern and affects family members at a young age. We have described a novel mutation in the Nuclear Factor of Activated T-cells (NFATc1), which is a gene that codes for a calcium dependent transcription factor, in a Utah family with a familial AF phenotype. My objective is to determine if the M527L mutation changes nfatc1 mRNA expression. To complete this objective, I will use a humanized zebrafish line as a model organism. This line expresses an equivalent point mutation (M468L) as the Utah family, introduced using CRISPR/Cas9 technology. I will compare mRNA expression between wild-type, homozygous nfatc1 mutant, and knock-out nfatc1 zebrafish (as my negative control) at 120 hours post-fertilization using RT-qPCR. Thus far, I have validated the nfatc1 primer using gel electrophoresis and sequencing, and successfully collected all mRNA zebrafish samples. Next steps involve measuring nfatc1 mRNA expression along with other genes relevant to cardiac function. My research will provide insight into whether or not the M527L mutant alters nfatc1 expression, and its possible contribution to the development of AF.