To see the original research paper by D Herman (Truncations of Titin Causing Dilated Cardiomyopathy), click here!
Or, if you would prefer to see the simplified analysis by E McNally of the Nature journal, click here!
(UQ login may be required)
In conclusion, Herman’s new study has served to shed light on one of the predominant causes of dilated cardiomyopathy, and to demonstrate the potentials of the technologies and techniques on the rapidly advancing frontier of genetics research. Through the sequencing of TTN - the gene responsible for the production of titin - it was possible to determine a specific mechanism responsible for the disease. This knowledge, in the future, may be allow doctors to treat the disease with the similarly modern technique of gene therapy, potentially saving many lives and improving the quality of life of many suffering people, in addition to furthering our understanding of human genetic diseases.
A.D.A.M. (2010, December 23). Health Central. Retrieved March 18, 2012, from Alcoholic Cardiomyopathy: http://www.healthcentral.com/heart-disease/h/can-alcohol-cause-cardiomyopathy.html
DeFrances, M., & Lee, R. (1998). Cardiovascular Pathology. Retrieved March 18, 2012, from Marie C DeFrances: http://path.upmc.edu/cases/case161.html
Herman, D. (2012). 'Genetics: Broken giant linked to heart failure'. New England Journal of Medicine , 366 (7), 619-628.
McNally, E. (2012). 'Genetics: Broken giant linked to heart failure'. Nature , 483 (1), 281-282.
Zieve, D., & Chen, M. (2011, May 23). Dilated cardiomyopathy. Retrieved March 18, 2011, from PubMed Health: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001221/