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FACULTY
Academic Address:
University of California, Irvine
101 The City Drive
ZC 4482
Orange, CA 92868
Email:
mzaragoz@uci.edu
Michael Zaragoza, M.D., Ph.D.
- Faculty Profile
- Position:
- Assistant Clinical Professor of Pediatrics
- - Human Genetics Division & Metabolism
- Special Interests:
- the genetic causes of congenital heart disease and cardiomyopathy
- For more information, please refer to:
Your Heart, Your Genes and Your Health article
The Genetics of Cardiomypathy and Heart Failure
Research Study
- EDUCATION
- Graduate Education:
- Ph.D. (Genetics) Case Western Reserve University, Cleveland, OH
- Medical School Education:
- Case Western Reserve University, School of Medicine, Cleveland, OH
- Residency:
- UC Irvine - Combined 5-year Residency in Pediatrics and Medical Genetics
- HONORS & AWARDS
- American Heart Association Young Investigators Forum, Western States
Affiliate - Honorable Mention for
Moderated Poster Presentation, 2005
- Outstanding Pediatric Fellow Award, UCI Irvine Medical Center, 2005
- Pediatric Resident Teaching Award, UC Irvine Medical Center, 2003
- National Service Award Training Grant, MSTP, CWRU, 1992-2000
- Phi Beta Kappa, UC Berkeley, 1992
- EOP/AA Achievement Award, UC Berkeley, 1990
- Emerging Leadership Alumni Scholarship, UC Berkeley, 1989-1990
- MEMBERSHIPS & AFFILIATIONS
- Board Certifications:
- American Board of Medical Genetics
- Professional Societies:
- American Society of Human Genetics, Member
- RESEARCH
- Interests:
- Dr. Zaragoza’s primary research and clinical interest is in the genetic causes of congenital heart disease and cardiomyopathy. His research is focused on examining mitochondrial dysfunction as the etiology of cardiac malformations and cardiomyopathies in an animal model and in patients. During the past two years, he has conducted molecular genetic studies on families with the human cardiomyopathy, isolated noncompaction of the ventricular myocardium (INVM). 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), 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 currently are being investigated.
Dr. Zaragoza also will direct a new outpatient Cardiogenetics Clinic at UCI planned for 2006. The clinic will specialize in the evaluation, diagnosis and care of children and adults with congenital heart disease, heart failure and cardiomyopathies including dilated cardiomyopathy, hypertrophic cardiomyopathy, noncompaction cardiomyopathy and mitochondrial cardiomyopathies. Detailed pedigree analysis and clinical genetic evaluations will be conducted to determine the hereditary nature of the condition (familial versus sporadic) and whether the cardiac condition is “isolated” or a feature of a genetic syndrome. At the Cardiogenetics Clinic, patients and families may be provided information about the hereditary nature of the condition through genetic counseling and be offered diagnostic methods including DNA testing. Family screening for cardiomyopathies also will be available to help facilitate the identification of at-risk, asymptomatic family members. The clinic aims are to learn more about the genetic factors in heart failure, cardiomyopathy and congenital heart disease and to improve the medical care of families with these conditions.
- SELECTED PUBLICATIONS
- 1. Zaragoza MV, Jacobs PA, James RS, Rogan P, Sherman S, Hassold T. Nondisjunction of human
acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns. Hum Genet 94: 411-417, 1994.
- 2. Zaragoza MV, Millie E, Chakravarti A, Surti U, Redline RW, Hassold TJ. Origin and phenotype of triploidy
in spontaneous abortions: predominance of diandry and its association with the partial hydatidiform mole. American Journal of
Human Genetics 66: 1807-20, 2000.
- 3. Zaragoza MV, Lewis LE, Wang E, Sun G, Li L, Said-Salman I, Feucht L, Huang T. Identification of the
TBX5 transactivating domain and the nuclear localization signal. Gene 330: 9-18, 2004.
- 4. Pop R, Zaragoza MV, Gaudette M, Bocian ME, Scherer G. A homozygous nonsense mutation in SOX9 in the
dominant disorder campomelic dysplasia: a case of mitotic gene conversion. Human Genetics 117: 43-53, 2005.
- 5. Zaragoza MV, Johnson MT, Lynn A, Newkirk D, Christ L, Smoot LB, Sperling DR, Bocian ME, Schwartz S,
Robin NH, Brozovich F, Huang T. A locus for autosomal dominant isolated noncompaction of the ventricular myocardium maps to
chromosome 11. Manuscript in preparation.
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