Weakness of a giant: mutations of the sarcomeric protein titin.
In 2002, three reports described for the first time mutations in the sarcomeric protein titin associated with dilated cardiomyopathy in humans. Despite different locations (Z-line region, Z-I transitional zone, N2B region, half A band region) all mutations resulted in heart failure. In addition, an N2B mutation was found in zebrafish embryos with ventricular dilatation and cardiac insufficiency. It is concluded that titin mutations have significant functional consequences and need to be studied intensively in the future.
Stefan
S
Hein
Jutta
J
Schaper
D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D064211:Connectin; D006801:Humans; D008954:Models, Biological; D008957:Models, Genetic; D009124:Muscle Proteins / Q000235:genetics* / Q000502:physiology*; D020033:Protein Isoforms; D011494:Protein Kinases / Q000235:genetics* / Q000502:physiology*; D012518:Sarcomeres / Q000378:metabolism
D064211:Connectin; D009124:Muscle Proteins; D020033:Protein Isoforms; C577285:TTN protein, human; D011494:Protein Kinases