P2844Ablation of dysferlin gene ameliorates desmin deficient cardiomyopathy
نویسندگان
چکیده
منابع مشابه
Dilated cardiomyopathy and the desmin gene.
To the Editor: Li et al1 report a mutation screening study of actin and desmin genes in 44 probands with familial dilated cardiomyopathy (DCM) and conclude that a mutation of the desmin gene can cause DCM. We believe that the genetic data are not yet sufficient to justify this conclusion. Attempts to find genes for autosomal dominant DCM by linkage analysis have been frustrating; although 6 chr...
متن کاملDesmin-related restrictive cardiomyopathy.
Restrictive cardiomyopathies may have different etiologies, among which we can point out storage diseases by accumulation of different materials such as desmin. Desminopathies are uncommon diseases that progress with conduction abnormalities, peripheral myopathies, and ventricular dysfunction. The present report describes a patient with complete atrioventricular block as the initial event; he l...
متن کاملPregnancy in Desmin-Related Cardiomyopathy
The course of desmin-related restrictive cardiomyopathy (DRCM) during pregnancy has not been described previously because of the rarity of the condition. Following an episode of heart failure antecedent to conception, a 28-year-old primigravida with DRCM presented to establish prenatal care during the first trimester. Prenatal management consisted of β-blocker and diuretic therapy, with serial ...
متن کاملBcl-2 overexpression corrects mitochondrial defects and ameliorates inherited desmin null cardiomyopathy.
One of the hallmarks of cardiomyopathy and heart failure is pronounced and progressive cardiomyocyte death. Understanding the mechanisms involved in cardiomyocyte cell death is a topic of great interest for treatment of cardiac disease. Mice null for desmin, the muscle-specific member of the intermediate filament gene family, develop cardiomyopathy characterized by extensive cardiomyocyte death...
متن کاملMouse model of desmin-related cardiomyopathy.
BACKGROUND The consequence of upregulation of desmin in the heart is unknown. Mutations in desmin have been linked to desmin-related myopathy (DRM), which is characterized by abnormal intrasarcoplasmic accumulation of desmin, but direct causative evidence that a desmin mutation leads to aberrant intrasarcoplasmic desmin accumulation, aggregation, and cardiomyopathy is lacking. METHODS AND RES...
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ژورنال
عنوان ژورنال: European Heart Journal
سال: 2018
ISSN: 0195-668X,1522-9645
DOI: 10.1093/eurheartj/ehy565.p2844