be230cLecture9

What diseases inherited diseases cell autonomous

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Unformatted text preview: h HCM are larger than wild type cells Xonia Carvajal 25 !m Text 25 !m Can We Use iPS to Understand Molecular Mechanisms of Disease • Understand Molecular Mechanisms of Inherited Disease in our individual patient? Long QT 2 Family: 2398 1G>C Mutation in hERG Long QT 2 Family: 2398 1G>C Mutation in hERG Sudden Death after albuterol script Jeffrey C. Robinson1, Melanie A. Jones1, David J. Tester4, and Zhengfeng Zhou 1Division of Cardiovascular Medicine, Oregon Health & Science University, Portland, OR A splice2site mutation in hERG leads to cryptic splicing in human of Utah, Departments of Medicine and Cardiology, LDS Hospital, Intermountain Healthcare and University long QT School of Medicine, Salt Lake City, UT syndrome 3Department of Medicine, University of Rochester, Rochester, NY NIH-PA Author Manuscript 4Departments of 2, Arthur J. Moss3, Molecular Pharmacology, ichael J. Ackerman4, Qiuming Gong1, Li ZhangMedicine, Pediatrics andG. Michael Vincent2, MMayo Clinic College of Medicine, Rochester, MN Jeffrey C. Robinson1, Melanie A. Jones1, David J. Tester4, and Zhengfeng Zhou 1Division of Cardiovascular Medicine, Oregon Health & Science University, Portland, OR Abstract 2Departments of Medicine and Cardiology, LDS Hospital, Intermountain Healthcare and University of Utah, Mutations in the human ether-a-go-go-related gene (hERG) cause type 2 long QT syndrome. In this School of Medicine, Salt Lake City, UT ng et al. study, we investigated the mechanism of the hERG splice site mutation 2398+1G>C and the genotype-phenotype of Rochester, mutation carriers 3Department of Medicine, University relationship of Rochester, NY in three unrelated kindreds with long QT Page 11 syndrome. The effect of 2398+1G>C on mRNA splicing was studied by analysis of RNA isolated 4Departments of Medicine, PediatricsindexMolecular Pharmacology, Mayo Clinicin HEK293 cells and neonatal from lymphocytes of and patients and using minigenes expressed College of Medicine, Rochester, MN rat ventricular myocytes. RT-PCR analysis revealed that the 2398+1G>C mutation disrupted the normal splicing and activated a cryptic splice donor...
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