Presenter
Lisbeth Aquino
Document Type
Poster
Publication Date
2025
Abstract
Proprotein convertase subtilisin/Kexin type 1 (PCSK 1) is a rare inherited metabolic disorder associated with severe digestive issues, delayed puberty, and obesity. The cause of this genetic mutation occurs when a person inherits two copies of an autosomal recessive gene. Recessive traits are more common in families who marry close relatives. When the PCSK 1 gene is negatively impacted, it can impair the enzyme function, worsening the disease. As the gene is being mutated, it can create other mutations such as N309K, RCV001374497-rs143209024, and c.1095 + 1G > A. The N309K gene affects the active site of an enzyme that causes the body to have diarrhea and affects endocrinopathies. RCV001374497-rs143209024 can cause rare hereditary breast ovarian cancer syndrome. The final mutation c.1095 + 1G > A will skip over exon 8, and the non-functional protein stays stuck in the endoplasmic reticulum (ER), causing stress on the ER. When researching PCSK 1, it was concluded that this gene can result in obesity and other health issues, but other factors such as epigenetics can play a greater role. Studies have shown that when a mother consumes too much or too little food during their pregnancy, it can permanently change the development of a baby’s metabolism. As obesity rates continue to rise, more advanced drug treatments like Ozempic are likely to be produced. By allowing individuals to take their dosages at home, these medications may diminish the prevalence of obesity in future years.
Faculty Mentor
Kristin Rosler, Ph.D.
Academic Discipline
College of Engineering & Design; College of Arts & Sciences
Repository Citation
Aquino, Lisbeth, "The Genetic Role of PCSK 1" (2025). Student Research Design & Innovation Symposium. 214.
https://scholarsarchive.jwu.edu/innov_symposium/214
