منابع مشابه
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.
Muscle fiber deterioration resulting in progressive skeletal muscle weakness, heart failure, and respiratory distress occurs in more than 20 inherited myopathies. As discussed in this Review, one of the newly identified myopathies is desminopathy, a disease caused by dysfunctional mutations in desmin, a type III intermediate filament protein, or alphaB-crystallin, a chaperone for desmin. The ra...
متن کاملDesmin splice variants causing cardiac and skeletal myopathy.
Desmin myopathy is a hereditary or sporadic cardiac and skeletal myopathy characterised by intracytoplasmic accumulation of desmin reactive deposits in muscle cells. We have characterised novel splice site mutations in the gene desmin resulting in deletion of the entire exon 3 during the pre-mRNA splicing. Sequencing of cDNA and genomic DNA identified a heterozygous de novo A to G change at the...
متن کاملDesmin-related cardiomyopathy in transgenic mice: a cardiac amyloidosis.
An R120G missense mutation in the small heat shock protein alpha-B-crystallin (CryAB(R120G)) causes desmin-related cardiomyopathy (DRM). DRM is characterized by the formation of aggregates containing CryAB and desmin, and it can be recapitulated in transgenic mice by cardiac-specific expression of the mutant protein. In this article, we show that expression of CryAB(R120G) leads to the formatio...
متن کاملMechanisms linking Mental Health Problems and Cardiac Disease: A Review
Psychological problems play a critical role in development of cardiovascular disease. Several mechanisms were suggested to explain the association and mechanism of this effect, recently. Knowledge of the mechanisms mediating the association between psychological status and heart disease could help in developing treatments. The effects of mind and mood on the cardiovascular system can be due to ...
متن کاملReversal 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....
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ژورنال
عنوان ژورنال: Circulation Research
سال: 2018
ISSN: 0009-7330,1524-4571
DOI: 10.1161/circresaha.118.312965