Desmin related disease: a matter of cell survival failure
نویسندگان
چکیده
منابع مشابه
Reversal of amyloid-induced heart disease in desmin-related cardiomyopathy.
Amyloid oligomers, similar to the toxic entities found in Alzheimer's disease patients and in other amyloid-based diseases, are present in cardiomyocytes derived from human heart-failure patients and in animal models of desmin-related cardiomyopathy (DRM). The R120G mutation in alpha-B-crystallin (CryAB) causes DRM and is characterized by aggresomes containing CryAB(R120G) and amyloid oligomer....
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 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...
متن کاملDesmin-related myopathy: report of a rare case.
The Protein Surplus Myopathies (PSM) are characterized by accumulation of protein aggregates, identifiable ultrastructurally, resulting due to mutations of the encoding genes. Desmin-related myopathies (DRM) are a form of PSM characterized by mutations of the desmin gene resulting in the formation of protein aggregates comprising mutant protein desmin and disturbance of the regular desmin inter...
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ژورنال
عنوان ژورنال: Current Opinion in Cell Biology
سال: 2015
ISSN: 0955-0674
DOI: 10.1016/j.ceb.2015.01.004