NEW MODEL ALLOWS SCIENTISTS TO STUDY MECHANISM OF HCM DEVELOPMENT AND TEST DRUGS FOR TREATMENT
Hypertrophic Cardiomyopathy (HCM) is a prevalent heart condition that involves the thickening of the heart walls, which overtime can lead to the development of an irregular heart beat and sudden cardiac death. HCM has been estimated to be the most common inherited heart condition in the world, and has been associated with several DNA mutations affecting sarcomeres, or the basic unit of a muscle.
Dr. Joseph Wu, an NIH Director’s New Innovator Award Recipient from Stanford University, and his colleagues, have developed a new technology using induced pluripotent stem cells (iPSCs) obtained from skin cells of a family of patients that allows them to model HCM at the level of a single cell. The researchers were able to turn the skin-derived iPSCs into heart muscle cells, permitting them to investigate the underlying causes of HCM development without requiring the difficult direct collection of diseased heart tissue. This model allowed the researchers to better understand how a specific DNA mutation, carried by affected members of this particular family, can lead to the development of HCM, and helped them to test therapies that might be used to treat or prevent HCM due to this specific mutation. This new technology can be used by other researchers to investigate the effect of other DNA mutations on the development of HCM, and to screen the effectiveness of new treatments and preventative therapies specific to each mutation.
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Lan F, Lee AS, Liang P, Sanchez-Freire V, Nguyen PK, Wang L, Han L, Yen M, Wang Y, Sun N, Abilez OJ, Hu S, Ebert AD, Navarrete EG, Simmons CS, Wheeler M, Pruitt B, Lewis R, Yamaguchi Y, Ashley EA, Bers DM, Robbins RC, Longaker MT, Wu JC. Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells. Cell Stem Cell. 2013 Jan 3;12(1):101-13. PubMed PMID: 23290139.