Mybpc3 gene therapy for neonatal cardiomyopathy enables long-term ...
2014年12月2日 · In the present study, we administered a single dose of adeno-associated virus serotype 9 (AAV9)- Mybpc3 in 1-day-old KI mice. This prevents the development of cardiac hypertrophy and...
An Update on MYBPC3 Gene Mutation in Hypertrophic …
Studies have revealed that the administration of full-length WT Mybpc3 cDNA via the AAV vector in homozygous Mybpc3-targeted knock-in mice can effectively hinder the onset of cardiac hypertrophy and dysfunction by augmenting cMyBP-C protein levels.
AAV9-mediated MYBPC3 gene therapy with optimized expression …
2025年3月4日 · MYBPC3 -associated HCM, an autosomal dominant condition, is a progressive disease characterized by left ventricular (LV) hypertrophy, small LV volume, ventricular diastolic dysfunction,...
Targeted Mybpc3 Knock-Out Mice with Cardiac Hypertrophy …
We used high-resolution echocardiography to compare Mybpc3-null, heterozygous, and wild-type mice (n = 84, aged 3-6 months) and micro-CT for MV volume (n = 6, age 6 months). Mybpc3 -null mice showed left ventricular hypertrophy, dilation, and systolic dysfunction compared to heterozygous and wild-type mice, but no systolic anterior motion of ...
Targeting the population for gene therapy with MYBPC3
2021年1月1日 · A single systemic dose of AAV9 (best serotype for heart in mice) carrying the Mybpc3 cDNA under the control of the human cardiac troponin T (TNNT2) promoter restored the levels of MYBPC3 mRNA and protein and prevented the development of LVH and dysfunction in a dose-dependent manner in mice (from [62]).
Targeted Mybpc3 Knock-Out Mice with Cardiac Hypertrophy …
Mybpc3-null mice showed left ventricular hypertrophy, dilation, and systolic dysfunction compared to heterozygous and wild-type mice, but no systolic anterior motion of the MV or left ventricular outflow obstruction.
Mybpc3 KO Mice | Metabolic Disease Models - Cyagen
The Mybpc3 KO mouse is a gene knockout model created using gene-editing techniques to knock out the coding sequence of the Mybpc3 gene (the homolog of the human MYBPC3 gene) in mice. This model is used to research the pathogenic mechanisms of hypertrophic cardiomyopathy (HCM) and develop related therapeutic strategies.
Haploinsufficiency of MYBPC3 exacerbates the development of
In previous studies, heterozygous (HET) mice with a MYBPC3 C'-terminal truncation mutation and normal cMyBP-C levels show altered contractile function prior to any overt hypertrophy. Therefore, this study aimed to test whether haploinsufficiency occurs, with decreased cMyBP-C content, following cardiac stress and whether the functional ...
Characterization of heterozygous and homozygous mouse models …
2023年12月1日 · Adult homozygous Mybpc3c.2373InsG mice are representative of stage IV HCM patients. Adult heterozygous mice do not present with HCM. Homozygous Mybpc3c.2373InsG cardiomyocytes present with stiffened tubulin signature. Pharmacological treatments improve Mybpc3c.2373InsG cardiomyocyte relaxation.
Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate …
2019年1月23日 · Toepfer et al. investigated how mutations in cardiac myosin-binding protein C (encoded by MYBPC3) alter cardiac muscle contraction and relaxation. Using mouse models and human muscle fibers, they showed that MYBPC3 mutations increased contractility and decreased relaxation by disrupting myosin conformations.