Mestroni Molecular Genetics Program - CU Cardiovascular Institute
Lab Mission
Discover the cause of mechanisms of inherited cardiomyopathies and find the cure.
Collaborations and Tools
TOOLS: cardiac cellular and molecular biology, primary cell cultures, access to the Heart Tissue Bank, the Familial Cardiomyopathy Registry Biobank, transcriptomics, human iPSC-derived cell models, atomic force microscopy.
KEY COLLABORATORS:
Dr. Brisa Pena, Assistant Professor, Bioengineering Department
Dr. Jeffrey Jacot, Associate Professor of Bioengineering
Dr. Dae Won Park, Associate Professor of Bioengineering
Work We Do
My research is dedicated to the study of genetics of heart muscle diseases, called cardiomyopathies. Since 1991, we have collected clinical information and DNA of over 2000 subjects from families with cardiomyopathies, initially in Italy and subsequently in the USA. Data and materials are collected in the International Familial Registry which has been supported by various grants of the NIH, AHA, UN, MDA. Through our researches on the molecular genetics of cardiomyopathies and analysis on genotype-phenotype correlations, several genes and pathways causing heart disease have been investigated in my laboratory, from cytoskeletal and sarcomeric genes, to ion channels. We are interested in the genes causing dilated cardiomyopathy, arrhythmogenic right ventricular dysplasia, left ventricular noncompaction and hypertrophic cardiomyopathy. Our ongoing research has shown that specific genes may have a different prognosis and may suggest different management strategies. Functional studies of mutant cardiomyopathy genes are also performed to evaluate the consequences of the defective proteins on cellular models. We are currently exploring applications of nanotechnology, biophysics and bioengineering to the study of heart function and cardiomyopathies
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