Welcome to the Zaragoza Laboratory

Overview

Dr. Zaragoza’s primary research and clinical interests are in the genetic causes of cardiomyopathy and congenital heart disease (CHD). These are serious medical conditions that result in a wide range of heart problems, from no symptoms at all to heart failure. The underlying causes of these heart conditions are poorly understood. The Zaragoza lab researches the cause of these heart conditions so that better diagnostic tests and medical treatments might be developed in the future.

Dr. Zaragoza examines mitochondrial dysfunction as the etiology of cardiac malformations and cardiomyopathies in an animal model and in humans. During the past three years, he has conducted molecular genetic studies on families with the human cardiomyopathies including Noncompaction of the Left Ventricular Myocardium (NCLV). The major feature of noncompaction cardiomyopathy is loose, trabeculated myocardium, thought to arise from a block in a process in which myofibrils compact during cardiogenesis. In humans, several genes contribute to the etiology; however, for most patients, the genetic defect and underlying mechanisms are unknown. Results from the genetic studies of Dr. Zaragoza provide evidence for a new locus for INVM on chromosome 11.

Dr. Zaragoza more recently began investigating the role of mitochondria in cardiomyopathy in two mouse models, mice deficient in the adenine nucleotide translocator proteins (ANTs). These are nuclear-encoded inner mitochondrial membrane proteins involved in oxidative phosphorylation and in apoptosis. Mice deficient in Ant1 develop hypertrophic and dilated cardiomyopathies while mice deficient in Ant2 die at mid-gestation from ventricular hypoplasia and cardiac noncompaction. The pathophysiological and molecular mechanisms by which mitochondrial dysfunction leads to these cardiac abnormalities are currently being investigated.

Research Studies

The Genetics of Cardiomyopathy and Heart Failure

The Genetics of Congenital Heart Disease

Contact Us

Michael Zaragoza, M.D., Ph.D.
Center for Molecular and Mitochondrial Medicine and Genetics (MAMMAG)
University of California, Irvine (UCI)

2014 Hewitt Hall
Irvine, CA 92697

phone: (949) 824-8813

About Dr. Zaragoza

"Your Heart, Your Genes, Your Health": A brief introduction to cardiac genetics

UC Irvine Faculty Profile