Targeting the population for gene therapy with MYBPC3
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Targeting the population for gene therapy with MYBPC3. / Carrier, Lucie.
in: J MOL CELL CARDIOL, Jahrgang 150, 01.2021, S. 101-108.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Review › Forschung
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TY - JOUR
T1 - Targeting the population for gene therapy with MYBPC3
AU - Carrier, Lucie
PY - 2021/1
Y1 - 2021/1
N2 - Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited myocardial disease characterized by unexplained left ventricular hypertrophy, diastolic dysfunction and myocardial disarray. Clinical heterogeneity is wide, ranging from asymptomatic individuals to heart failure, arrhythmias and sudden death. HCM is often caused by mutations in genes encoding components of the sarcomere. Among them, MYBPC3, encoding cardiac myosin-myosin binding protein C is the most frequently mutated gene. Three quarter of pathogenic or likely pathogenic mutations in MYBPC3 are truncating and the resulting protein was not detected in HCM myectomy samples. The overall prognosis of the patients is excellent if managed with contemporary therapy, but still remains a significant disease-related health burden, and carriers with double heterozygous, compound heterozygous and homozygous mutations often display a more severe clinical phenotype than single heterozygotes. We propose these individuals as a good target population for MYBPC3 gene therapy.
AB - Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited myocardial disease characterized by unexplained left ventricular hypertrophy, diastolic dysfunction and myocardial disarray. Clinical heterogeneity is wide, ranging from asymptomatic individuals to heart failure, arrhythmias and sudden death. HCM is often caused by mutations in genes encoding components of the sarcomere. Among them, MYBPC3, encoding cardiac myosin-myosin binding protein C is the most frequently mutated gene. Three quarter of pathogenic or likely pathogenic mutations in MYBPC3 are truncating and the resulting protein was not detected in HCM myectomy samples. The overall prognosis of the patients is excellent if managed with contemporary therapy, but still remains a significant disease-related health burden, and carriers with double heterozygous, compound heterozygous and homozygous mutations often display a more severe clinical phenotype than single heterozygotes. We propose these individuals as a good target population for MYBPC3 gene therapy.
U2 - DOI:10.1016/j.yjmcc.2020.10.003
DO - DOI:10.1016/j.yjmcc.2020.10.003
M3 - SCORING: Review article
VL - 150
SP - 101
EP - 108
JO - J MOL CELL CARDIOL
JF - J MOL CELL CARDIOL
SN - 0022-2828
ER -
