Catecholaminergic Polymorphic Ventricular TachycardiaRYR2 gene mutationWhile the majority of infants with an apparent life-threatening event (ALTE) recover uneventfully, some may have underlying causes that place them at increased risk for recurrent events and sudden death.1 Recurrent ALTEs warrant deeper ...
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is associated with mutations in RyR2 gene. Here we review the molecular pathophysiology of RyR2-associated CPVT and the innovative therapeutic strategies. The new therapeutic strategy targeting RyR2 might apply not only to patients with CPVT, but...
对先证者外周静脉血提取dna进行高通量测序,将高通量测序结果在hgmd数据库中进行序列比对,并对omim数据库中所有明确致病关系的基因进行逐个分析,结合genecards数据库分析基因的功能,确定候选突变基因为ryr2。其次,对家系成员基因组dna中ryr2基因突变区域进行pcr扩增,通过sanger测序验证突变位点。筛选和验证突变的基因位点,发...
DHPR and RyR. Mutation in DHPR alpha1 results in excitation-contraction uncoupling, leading to muscular dysgenesis, a complete inactivity in developing skeletal muscles. Cells that do not express RyR also lack excitation-contraction coupling and exhibit a severalfold reduction in Ca2+ current density....
Description of a novel RyR2 mutation in a juvenile patient with symptomatic catecholaminergic polymorphic ventricular tachycardia in sleep and during exercise: a case reportCatecholaminergic polymorphic ventricular tachycardia, CPVT, Ryanodine receptor type 2 (RyR2), Novel gene mutation, Cardiac arrest...
Moreover, the hiPSC model was used to characterize a mutation in theTERCLgene leading to the CPVT syndrome. Higher diastolic Ca2+concentration, lower SR Ca2+load due to decreased SERCA and NCX activity, smaller Ca2+transient amplitude and prolonged APs were observed in homozygous TERCL-hiPSC-CM...
Larner AJ. Presenilin-1 mutation Alzheimer's disease: a genetic epilepsy syndrome?Epilepsy Behav. 2011;21:20–22. PubMedWeb of Science ®Google Scholar LaFerla FM. Calcium dyshomeostasis and intracellular signalling in Alzheimer's disease.Nat Rev Neurosci. 2002;3:862–872. ...
The effects of the RyR2R4496C mutation on Purkinje cell calcium homeostasis, however, are unknown. Hypothesis: Cardiac Purkinje cells from the RyR2R4496C mouse have a higher incidence and amplitude of spontaneous calcium release than ventricular myocytes. Methods: We isolated Purkinje cells and ...
Catecholaminergic Polymorphic Ventricular TachycardiaRYR2 gene mutationWhile the majority of infants with an apparent life-threatening event (ALTE) recover uneventfully, some may have underlying causes that place them at increased risk for recurrent events and sudden death.1 Recurrent ALTEs warrant deeper ...
Catecholaminergic Polymorphic Ventricular TachycardiaRYR2 gene mutationWhile the majority of infants with an apparent life-threatening event (ALTE) recover uneventfully, some may have underlying causes that place them at increased risk for recurrent events and sudden death.1 Recurrent ALTEs warrant deeper ...