The sarcomeric Z-disc and Z-discopathies.
The sarcomeric Z-disc defines the lateral borders of the sarcomere and has primarily been seen as a structure important for mechanical stability. This view has changed dramatically within the last one or two decades. A multitude of novel Z-disc proteins and their interacting partners have been identified, which has led to the identification of additional functions and which have now been assigned to this structure. This includes its importance for intracellular signalling, for mechanosensation and mechanotransduction in particular, an emerging importance for protein turnover and autophagy, as well as its molecular links to the t-tubular system and the sarcoplasmic reticulum. Moreover, the discovery of mutations in a wide variety of Z-disc proteins, which lead to perturbations of several of the above-mentioned systems, gives rise to a diverse group of diseases which can be termed Z-discopathies. This paper provides a brief overview of these novel aspects as well as points to future research directions.
Centre for Research Excellence, British Heart Foundation, National Heart & Lung Institute, Imperial College, South Kensington Campus, Flowers Building, 4th Floor, London SW72AZ, UK. r.knoell@imperial.ac.uk
Ralph
R
Knöll
Byambajav
B
Buyandelger
Max
M
Lab
D000818:Animals; D009202:Cardiomyopathies / Q000378:metabolism*; D006801:Humans; D009124:Muscle Proteins / Q000737:chemistry / Q000378:metabolism; D009135:Muscular Diseases / Q000378:metabolism*; D012518:Sarcomeres / Q000737:chemistry* / Q000378:metabolism*
D009124:Muscle Proteins