生命科学联合中心学术报告

题目：Genetics, Genomics, and Pathogenesis of Arrhythmogenic Cardiomyopathy.

报告人：Marian, Ali J. (AJ), M.D.

Professor and Director,

Center for Cardiovascular Genetics,

The Brown Foundation Institute of Molecular Medicine

The University of Texas Health

时间：2015-11-5（周四），13:00-14:00pm

地点：北京大学邓祐才报告厅

联系人：何爱彬

Arrhythmogenic Cardiomyopathy (AC) is a perplexing genetic disease characterized pathologically by a gradual infiltration of the myocardium by fibro-adipocytes and clinically by ventricular arrhythmias, heart failure, and sudden death. Molecular genetic basis of AC is partially understood and mutations in genes encoding desmosome proteins, components of the intercalated disks, have emerged as the main causes of AC. Elucidation of the molecular genetic basis has provided a platform to delineate its molecular pathogenesis and identify the pathways that link the causal mutations to the phenotype.

Thus, a brief discussion of the clinical aspects of AC will be presented.  Then its molecular genetic basis will be discussed and how the genetic discoveries provided the first clue to the pathogenesis of fibro-adipocyte infiltrating myocardium. A brief discussion of altered mechanical properties of cells deficient in desmosome proteins will be discussed along with activation of mechano-sensitive signaling pathways and their contributions to the AC phenotype. Then our contemporary approach of integrated genomic analysis encompassing CpG methylation, histone modifications and transcriptome will be presented to identify novel mechanisms involved in the pathogenesis of AC. Finally, if time permits, a brief discussion of our approach to replacing the defective proteins in AC will be presented.  

欢迎各位老师同学积极参加！