Disease relevance of ttn

• Absence of Titin function thus results in blockage of sarcomere assembly and causes a functional disorder resembling human dilated cardiomyopathies, one form of which is described in another paper in this issue [1].

High impact information on ttn

• Titin is the biggest known protein and spans the half-sarcomere from Z-disc to M-line in heart and skeletal muscle [1].
• Obscurin/obscurin-MLCK is a giant sarcomere-associated protein with multiple isoforms whose interactions with titin and small ankyrin-1 suggest that it has an important role in myofibril assembly, structural support, and the sarcomeric alignment of the sarcoplasmic reticulum [2].
• Collectively, our results reveal distinct functions of different titin isoforms and suggest that various phenotypes in "titinopathies" may be attributable to the disruption of different titin isoforms [3].
• The genetic study of titin has been notoriously difficult because of its size and complicated alternative splicing routes [3].

Analytical, diagnostic and therapeutic context of ttn

• Here, we have used zebrafish as an animal model to investigate the functions of individual titin isoforms [3].

References