Journal
JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY
Volume 40, Issue 2, Pages 159-167Publisher
SPRINGER
DOI: 10.1007/s10974-019-09518-w
Keywords
Titin; Animal models; Induced pluripotent stem cell derived cardiomyocytes; CRISPR; Cas9; Genome-engineering; Cardiomyopathy
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Funding
- British Heart Foundation (BHF) [FS/12/40/29712]
- BHF Centre of Research Excellence, Oxford [RE/13/1/30181]
- Wellcome Trust [201543/B/16/Z]
- Royal Thai government
- Wellcome Trust [201543/B/16/Z] Funding Source: Wellcome Trust
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Titin, the largest protein known, has attracted a lot of interest in the cardiovascular field in recent years, since the discovery that truncating variants in titin are commonly found in patients with dilated cardiomyopathy. This review will discuss the contribution of variants in titin to inherited cardiac conditions (cardiomyopathies) and how model systems, such as animals and cellular systems, can help to provide insights into underlying disease mechanisms. It will also give an outlook onto exciting technological developments, such as in the field of CRISPR, which may facilitate future research on titin variants and their contributions to cardiomyopathies.
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