Genetic mutations can cause a type of heart disease called dilated cardiomyopathy, by predisposing the organ to enlarge and function poorly. It has now been found that 27% of cases are due to mutations that disrupt the muscle protein titin.
References
Dellefave, L. & McNally, E. M. Curr. Opin. Cardiol. 25, 198–204 (2010).
Herman, D. S. et al. N. Engl. J. Med. 366, 619–628 (2012).
Miller, M. K., Granzier, H., Ehler, E. & Gregorio, C. C. Trends Cell Biol. 14, 119–126 (2004).
Gerull, B. et al. Nature Genet. 30, 201–204 (2002).
Gautel, M. Pflügers Arch. 462, 119–134 (2011).
Nagueh, S. F. et al. Circulation 110, 155–162 (2004).
Bamshad, M. J. et al. Nature Rev. Genet. 12, 745–755 (2011).
van Rijsingen, I. A. et al. J. Am. Coll. Cardiol. 59, 493–500 (2012).
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The author’s spouse receives patent royalties related to techniques used in massively parallel sequencing.
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McNally, E. Broken giant linked to heart failure. Nature 483, 281–282 (2012). https://doi.org/10.1038/483281a
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DOI: https://doi.org/10.1038/483281a
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