Start Date
2021
Description
- Hypertrophic cardiomyopathy (HCM) is a highly morbid myocardial disease occurring in 1:200 people in the general population
- Most common genetic cause of HCM are mutations in MYBPC3, encoding for MyBP-C, a critical protein for regulating cardiac muscle contractility
- Limited treatments available primarily focus on symptomatic management and cannot reverse cardiomyopathy
- Haploinsufficiency - one allele is unable to produce sufficient protein to maintain normal cardiac function
- Adeno-associated virus (AAV) mediated gene replacement therapy recently emerged as a therapeutic option for genetic diseases due to loss of function variants causing haploinsufficiency
Recommended Citation
Henderson, Marian; Meisner, Josh; Friedline, Sabrina; Tsan, Yao-chang; and Helms, Adam, "Efficacy of AAV-mediated gene replacement therapy for MYBPC3- associated HCM in iPSCMs" (2021). Summer Research. 21.
https://digitalcommons.calvin.edu/summer_research/2021/Posters/21
Included in
Jan 1st, 12:00 AM
Efficacy of AAV-mediated gene replacement therapy for MYBPC3- associated HCM in iPSCMs
- Hypertrophic cardiomyopathy (HCM) is a highly morbid myocardial disease occurring in 1:200 people in the general population
- Most common genetic cause of HCM are mutations in MYBPC3, encoding for MyBP-C, a critical protein for regulating cardiac muscle contractility
- Limited treatments available primarily focus on symptomatic management and cannot reverse cardiomyopathy
- Haploinsufficiency - one allele is unable to produce sufficient protein to maintain normal cardiac function
- Adeno-associated virus (AAV) mediated gene replacement therapy recently emerged as a therapeutic option for genetic diseases due to loss of function variants causing haploinsufficiency