How are new technologies being used to study children’s heart disease?

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The World Health Organization lists heart disease as the leading cause of death globally, representing 31% of deaths, translating to an estimated 17.7 million lives lost. A common heart disease that can lead to sudden death is arrhythmia, which can be recognized as irregular beating of the heart. When this occurs in the upper chambers it is a specific type of arrhythmia called AF. We are interested in this disease as it can lead to stroke and other heart related complications, including death. AF remains poorly characterized, and genetics are speculated to play a large role in causing this disease. One possible regulator of AF genetics is a class of proteins called nucleoporins (NUP). These proteins make up a structure called the nuclear pore complex (NPC) within the nucleus of the cell. NPCs are a passageway between the nucleus and cytoplasm that controls bidirectional exchange of proteins, RNA, and other macromolecules. NPCs also regulate gene expression and signal transduction. Different studies have shown clinical associations between NUPs and cardiac diseases. For example, a mutation in NUP155 has been linked to incidences of AF and sudden heart failure in the children of a South American family. We seek to understand how NUP155 mutation leads to AF, and will use animal stem cell models together with genome editing and bioinformatics to explore the potential mechanisms that lead to this serious cardiac disease.


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