Michael V Zaragoza, MD, PhD

picture of Michael V Zaragoza, MD, PhD

Assistant Professor, Depts of Pediatrics- Genetics & Genomics Division and Biological Chemistry
School of Medicine

M.D., Case Western Reserve University, 2000

Ph.D., Case Western Reserve University, 2000, Genetics

Phone: (949) 824-8813
Email: mzaragoz@uci.edu

University of California, Irvine
2042 Hewitt Hall
Mail Code: 3940
Irvine, CA 92697
Research Interests
Human genetics, medical genetics, genomics, DNA variation, genetic modifiers, inherited cardiovascular diseases, cardiomyopathy, heart failure, arrhythmia, sudden cardiac death, patient-derived induced pluripotent stem (IPS) cells to model disease
Academic Distinctions
1987-1992 University of California at Berkeley, BA in Biophysics-Medical Physics with honors, high distinction
1992 Phi Beta Kappa, UC, Berkeley
1992-2000 National Service Award Training Grant, MSTP, CWRU
2003 Pediatric Resident Teaching Award, UC Irvine Medical Center
2005 Outstanding Pediatric Fellow Award, UC Irvine Medical Center
2007 Faculty Career Development Award, UCI
2007, 2008, 2009 American Heart Association Undergraduate Student Research Program-Host Laboratory
2007, 2011, 2014 College of Medicine Committee on Research Award, University of California, Irvine- Award x3
2012 UCI Institute for Clinical & Translational Science (ICTS) Pilot Project Award 2012
2012 , 2013 Best 1st year Course Award, Medical Genetics Course Director, UCI SOM- Award x2
2012-2015 Excellence in Teaching Award, Office of Medical Education, UCI SOM- Award x4
Research Abstract
Inherited cardiovascular diseases including cardiomyopathies and arrhythmia are conditions with high morbidity and limited therapies. Cardiomyopathies are caused by defects in either structural or energetic components of heart cells which lead to muscle weakness and heart failure. Arrhythmia is an abnormal heart beat or rhythm caused by a change in the electrical signals of the heart that can result in sudden cardiac death.

To investigate the specific molecular mechanisms in inherited cardiovascular diseases, the goal is to develop in vitro disease models directly from patients to assess the pathogenicity and mechanism of genetic mutations and modifiers.
1. Zaragoza MV, Jacobs PA, James RS, Rogan P, Sherman S, Hassold T. (1994) Nondisjunction of human acrocentric chromosomes:studies of 432 trisomic fetuses and liveborns. Hum Genet 94:411-417.

2. Hassold T, Abruzzo M, Adkins K, Griffin D, Merrill M, Millie E, Saker D, Shen J, Zaragoza M. (1996) Human aneuploidy: incidence, origin and etiology. Environ Mol Mut 28:167-175.

3. Keep D, Zaragoza MV, Hassold T, Redline RW. (1996) Very early complete hydatidiform mole. Hum Pathol 27:708-713.

4. Zaragoza MV, Keep D, Genest DR, Hassold T, Redline RW. (1997) Early complete hydatidiform moles contain inner cell mass derivatives. Am J Med Genet 70:273-277.

5. Griffin DK, Millie EA, Redline RW, Hassold TJ, Zaragoza MV. (1997) Cytogenetic analysis of spontaneous abortions: comparison of techniques and assessment of the incidence of confined placental mosaicism. Am J Med Genet 72:297-301.

6. Redline RW, Hassold T, Zaragoza MV. (1998) Prevalence of the partial molar phenotype in triploidy of maternal and paternal origin. Hum Pathol 29:505-511.

7. Redline RW, Hassold T, Zaragoza M. (1998) Determinants of villous trophoblastic hyperplasia in spontaneous abortions. Mod Pathol 11:762-768.

8. Zaragoza MV, Millie E, Redline RW, Hassold TJ. (1998) Studies of non-disjunction in trisomies 2, 7, 15, and 22:does the parental origin of trisomy influence placental morphology? J Med Genet 35:924 931.

9. Redline RW, Zaragoza M, Hassold T. (1999) Prevalence of developmental and inflammatory lesions in nonmolar first-trimester spontaneous abortions. Hum Pathol 30:93-100.

10. Zaragoza MV, Millie E, Chakravarti A, Surti U, Redline RW, Hassold TJ. (2000) Origin and phenotype of triploidy in spontaneous abortions: predominance of diandry and its association with the partial hydatidiform mole. Am J Hum Genet. 66:1807-20.

11. Zaragoza MV, Lewis LE, Wang E, Sun G, Li L, Said-Salman I, Feucht L, Huang T. (2004) Identification of the TBX5 transactivating domain and the nuclear localization signal.Gene 330:9-18.

12. Pop, R, Zaragoza MV, Gaudette M, Bocian ME, Scherer G. (2005) A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion. Hum Genet. 117:43-53.
13. Zaragoza MV, Arbustini E, Narula J. (2007) Noncompaction of the left ventricle: primary cardiomyopathy with an elusive genetic etiology. Curr Opin Pediatr 19:619-627.
14. Lindvall LE, Kormeili T, Chen E, Ramirez MM, Martignetti JA, Zaragoza MV, Dyson SW. (2008) Infantile systemic hyalinosis: case report and review of the literature. J Am Acad Dermatol 58:303-307.
15. Zaragoza MV, Fass J, Diegoli M, Lin D, Arbustini E. (2010) Mitochondrial DNA Variant Discovery and Evaluation in Human Cardiomyopathies through Next-generation Sequencing. PLoS ONE 5(8): e12295. PMID: 20808834; PMC2924892
16. Zaragoza MV, Brandon MC, Diegoli M, Arbustini E, Wallace DC. (2011) Mitochondrial cardiomyopathy: how to identify candidate pathogenic mutations by complete mitochondrial DNA sequencing, MITOMASTER and phylogenetic analysis. Eur J Hum Genet. 19:200-207. PMID: 20978534; PMC3025796
17. Narula N*, Zaragoza MV*, Sengupta PP, Li P, Haider N, Verjans J, Waymire K, Vannan M, Wallace DC. (2011) Adenine Nucleotide Translocase 1 Deficiency Results in Dilated Cardiomyopathy with Severe Defects in Myocardial Mechanics, Histopathology, and Activation of Apoptosis. *Co-first authors. J Am Coll Cardiol Img. 4:1-10. PMID: 21232697
18. Ronvelia D, Greenwood J, Platt J, Hakim S, Zaragoza MV. (2012) Clinical variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular non-compaction (LVNC) in his great-uncle. Molec Genet Metab. 107:428-432. PMID: 23031367; PMC3483384
19. Strauss KA, DuBiner L, Simon M, Zaragoza M, Sengupta PP, Li P, Narula N, Dreike S, Platt J, Procaccio V, Ortiz-Gonzalez XR, Puffenberger EG, Kelley RI, Morton DH, Narula J, Wallace DC. (2013) Severity of Cardiomyopathy Associated with Adenine Nucleotide Translocator-1 Null Mutation Correlates with mtDNA Haplogroup. Proc Natl Acad Sci. 110:3453-3458. PMID: 23401503; PMC3587196
20. Marshall LS, Simon J, Wood T, Peng M, Owen R, Feldman GS, Zaragoza MV. (2013) Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation. BMC Medical Genetics, 14:49. PMID: 23634718; PMC3643848
K08 NIH/NHLBI Mitochondrial Dysfunction & Noncompaction Cardiomyopathy, 2006-2011
R01 NIH/NHLBI Cardiac Functional and Structural Implications of Lamin A/C Mutations, 2015-present
Professional Societies
American Society of Human Genetics
American Heart Association
Other Experience
Board Certified in Clinical Genetics
American Board of Medical Genetics 2005

Director, UCI Medical Genetics Course for 1st yr medical students, 2011-present

Graduate Programs
Cellular and Molecular Biosciences

Medical Genetics

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