NDLI: Axial distribution of myosin binding protein-C is unaffected by mutations in human cardiac and skeletal muscle

Content Provider	Springer Nature Link
Author	Vydyanath, Anupama Gurnett, Christina A. Marston, Steve Luther, Pradeep K.
Copyright Year	2012
Abstract	Myosin binding protein-C (MyBP-C), a major thick filament associated sarcomeric protein, plays an important functional and structural role in regulating sarcomere assembly and crossbridge formation. Missing or aberrant MyBP-C proteins (both cardiac and skeletal) have been shown to cause both cardiac and skeletal myopathies, thereby emphasising its importance for the normal functioning of the sarcomere. Mutations in cardiac MyBP-C are a major cause of hypertrophic cardiomyopathy (HCM), while mutations in skeletal MyBP-C have been implicated in a disease of skeletal muscle—distal arthrogryposis type 1 (DA-1). Here we report the first detailed electron microscopy studies on human cardiac and skeletal tissues carrying MyBP-C gene mutations, using samples obtained from HCM and DA-1 patients. We have used established image averaging methods to identify and study the axial distribution of MyBP-C on the thick filament by averaging profile plots of the A-band of the sarcomere from electron micrographs of human cardiac and skeletal myopathy specimens. Due to the difficulty of obtaining normal human tissue, we compared the distribution to the A-band structure in normal frog skeletal, rat cardiac muscle and in cardiac muscle of MyBP-C-deficient mice. Very similar overall profile averages were obtained from the C-zones in cardiac HCM samples and skeletal DA-1 samples with MyBP-C gene mutations, suggesting that mutations in MyBP-C do not alter its mean axial distribution along the thick filament.
Starting Page	61
Ending Page	74
Page Count	14
File Format	PDF
ISSN	01424319
Journal	Journal of Muscle Research & Cell Motility
Volume Number	33
Issue Number	1
e-ISSN	15732657
Language	English
Publisher	Springer Netherlands
Publisher Date	2012-03-14
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Hypertrophic cardiomyopathy Distal arthrogryposis type 1 C-protein MyBP-C Myosin binding protein-C mutations Thick filament Biomedicine general Animal Anatomy / Morphology / Histology Proteomics Cell Biology
Content Type	Text
Resource Type	Article
Subject	Cell Biology Physiology Biochemistry

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