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FACULTY

Adolescent Medicine
Allergy & Immunology
Cardiology
Critical Care/PICU
Endocrinology
General Pediatrics
Hematology/Oncology
Human Genetics & Metabolism
James Bartley, M.D., Ph.D.
Maureen Bocian, M.D.
Jose Camacho, M.D.
Kenneth W. Dumars, M.D.
Pamela Flodman, M.S., CGC
John Jay Gargus, M.D., Ph.D.
Taosheng Huang, M.D., Ph.D.
Virginia Kimonis, M.D.
Vincent Procaccio, M.D., Ph.D.
Roxanne Ruzicka, M.S., CGC
Moyra Smith, M.D., Ph.D.
M. Anne Spence, Ph.D.
Kathy Steinhaus French,MS,CGC
Ann Walker, M.A., CGC
Douglas C. Wallace, Ph.D.
Michael Zaragoza, M.D., Ph.D.

Infectious Disease
Neonatal/Perinatal Medicine
Nephrology
Neurology
Pulmonology
Child Development Center
General Clinical Research Center

• Position:
• Associate Professor of Pediatrics
• - Human Genetics Division & Metabolism
• Associate Professor of Pharmacology
• Research Geneticist
• -Center for Molecular and Mitochrondrial Medicine and Genetics


• Please also visit Dr. Procaccio at:
• http://www.healthaffairs.uci.edu/pharmaco/index.asp?p=178
• http://www.faculty.uci.edu/profile.cfm?faculty_id=5073
• http://mitomed.bio.uci.edu/twiki/bin/view/Mitomed/Staff
  
• EDUCATION


• Graduate Education:
• Ph.D., Grenoble University, France


• Medical School Education:
• M.D., Grenoble University


• Internship & Residency:
• Grenoble University


• HONORS & AWARDS


• Faculty Career Development Award UCI, 2006
• Honorable Mention, American Heart Association Young Investigator Forum, 2005
• John Brown Scholarship Emory University, Georgia, 1999
• Young Clinical Researcher Award, Grenoble School of Medicine, 1996
• Research Award, Grenoble School of Medicine, 1994


• MEMBERSHIPS & AFFILIATIONS


• Professional Societies:
• American Society of Human Genetics
• Mitochondrial Research Society
• American Society for Pharmacology and Experimental Therapeutics
• New York Academy of Sciences


• Community Service:
• Voting Member of the UCI General Clinical Research Center Advisory Committee


• RESEARCH


• Procaccio's lab major research focus is investigation of mitochondrial function and implications for human disease. While mitochondria produce most of the energy, they also produce oxygen radicals as by-products causing mutations of mitochondrial DNA and irreparable damage to proteins and ultimately lead through mitochondrial apoptosis to cell destruction. Because of the crucial importance of mitochondria, mitochondrial diseases are the most common group of inborn errors of metabolism with a diverse range of symptoms spanning many organ systems. The complexity of mitochondrial pathology derives not only from the interplay of different genomes, but also from the mitochondrial differences specific to cell type, explaining the variability and complexity of these mitochondrial diseases.
  
  A major goal of our current studies is focused on the roles and functions of mitochondria in neurodegenerative disorders, with special emphasis on pharmacological and therapeutic aspects such as mechanisms of regulation of mitochondria by hormones. We have recently demonstrated that estrogen increases mitochondrial efficiency while decreasing ROS production providing insight into the role of mitochondria in preventing cerebrovascular dysfunction, and increasing our knowledge of how estrogen-related therapies impact vascular function and aged-related disorders.
  
  In addition, a recent area of investigation of our lab has focused on the role of mitochondria dysfunction in human embryonic stem cell biology to evaluate the role of damaged mitochondria in controlling proliferation and differentiation of embryonic stem cells.
  
• SELECTED PUBLICATIONS


• 1. Bannwarth S., Procaccio V, Rouzier C., Fragaki K., Poole J., Vialettes B., Chabrol B., Desnuelle C., Pouget J., Azulay J.P., Attarian S., Pellissier J.F., Gargus J., Abdenur J., Mozaffar T., Calvas P., Labauge P., Raccah D., Pages M., Wallace D.C., Lambert J.C., Paquis-Flucklinger V.. Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using Surveyor strategy. Manuscript in press in Mitochondrion.


• 2. Razmara A, Sunday L, Stirone C., Krause D.N., Duckles S.P, Procaccio V. Estrogen Suppresses Brain Mitochondrial Oxidative Stress in Female and Male Rats. Brain Research (2007) 1176:71-81.


• 3. Cano A, Rouzier C, Monnot S, Chabrol B, Conrath J, Lecomte P, Delobel B, Boileau P, Valero R, Procaccio V, Paquis-Flucklinger V, French Group of Wolfram syndrome and Vialettes B. Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome. American Journal of Medical Genetics (2007) 143A : 1605-1612.


• 4. Leveque M, Marlin S, Jonard L, Procaccio V, Reynier P, Amati-Bonneau P, Baulande S, Lacombe D, Duriez F, Francannet C, Mom T, Journel H, Catros H, Drouin-Garraud V, Obstoy MF, Dollfus, Eliot MM, Faivre L, Duvillard C, Couderc R, Garabedian EN, Petit C, Feldmann D, Denoyelle F. Mitochondrial Mutations in Maternally-Inherited Non-Syndromic Hearing Impairment: Prevalence of Known Mutations and Whole Mitochondrial Genome Screening using a Microarray Resequencing Mitochondrial DNA Chip. European Journal of Human Genetics (2007) 15, 1145–1155.
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• 5. Sarzi E, Brown M, Lebon S, Chretien D, Munnich A, Rotig A, Procaccio V. A novel recurrent mtDNA mutation in ND3 gene causing Leigh syndrome and dystonia. American Journal of Medical Genetics (2007) 143: 33-41.


• 6. Ruiz-Pesini E, Lott MT, Procaccio V, Poole J, Brandon MC, Mishmar D, Yi C, Kreuziger J, Baldi P, Wallace DC. An Enhanced MITOMAP with a Global mtDNA Mutational Phylogeny. Nucleic Acid Research (2007) 35: D823-D828.


• 7. Wallace D.C., Lott M.T., and Procaccio V. Mitochondrial genes in degenerative diseases, cancer and aging. Emery and Rimoin’s Principle and Practice of Medical Genetics. Elsevier Editor (2007) Chapter 13, 194-298.


• 8. Procaccio V, Neckelmann N, Paquis-Flucklinger V, Bannwarth S, Jimenez R, Davila A, Poole J and Wallace DC. Detection of Low Levels of the tRNAleu(UUR) 3243A>G Mutation in Mitochondrial DNA in Blood Derived from Patients with Diabetes. Molecular Diagnosis and Therapy (2006) 6: 381-389.


• 9. Kleim J, Chan S, Pringle E, Schallert K, Procaccio V, Jimenez R, Cramer S. BDNF val66/met polymorphism is associated with impaired experience-dependent plasticity in human motor cortex. Nature Neuroscience (2006) 6: 735-737


• 10. Bannwarth S, Procaccio V, Paquis-Flucklinger V. Rapid identification of unknown heteroplasmic mtDNA mutations across the entire human mitochondrial genome with mismatch-specific Surveyor Nuclease. Nature Protocols (2006) 1:2037-2047.


• 11. Procaccio V, Salazar G, Ono S, Styers M, Gearing M, Davila A, Jimenez R, Juncos J, Gutekunst CA, Meroni G, Fontanella B, Sontag E, J Sontag JM, Faundez V, Wainer BH. A mutation of β-actin which alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness and dystonia. (2006) American Journal of Human Genetics (2006) 78:947-960.


• 12. Naimi M, Bannwarth S , Procaccio V, Pouget J, Desnuelle C, Pellissier JF, Rotig A, Munnich A, Richelme C, Jonveaux P, Castelnovo G, Calvas P, Simon M, Wallace DC, Paquis-Flucklinger V. Molecular analysis of SLC25A4, TWINKLE and POLG in Patients With Multiple Deletions or Depletion of Mitochondrial DNA by a DHPLC-based assay. European Journal of Human Genetics (2006) 14 : 917-922.


• 13. Mishmar D, Ruiz-Pesini E, Mondragon-Palomino M, Procaccio V, Gaut B, Wallace DC. Phases of adaptive evolution in primate OXPHOS complex I shed light on the complex structure. Gene (2006) 378:11-8


• 14. Duckles S, Krause D, Stirone C, Procaccio V. Estrogen and mitochondria: a new paradigm for vascular protection? Molecular Interventions, 6: 26-35, 2006.


• 15. Volodko NV, L'vova MA, Starikovskaya EB, Derbeneva OA, Bychkov IY, Mikhailovskaya IE, Pogozheva IV, Fedotov FF, Soyan GV, Procaccio V, Wallace DC, Sukernik R. Spectrum of pathogenic mtDNA mutations in lever's hereditary optic nerve neuropathy families from Siberia. Genetika, 42: 76-83, 2006.


• 16. Stirone C, Buckles SP, Krause DN, Procaccio V. Estrogen increases mitochondrial efficiency and reduces oxidative stress in cerebral blood vessels. Molecular Pharmacology, 68(4): 959-965, 2005.


• 17. Bannwarth S, Procaccio V, Paquis-Flucklinger V. Surveyor nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects. Human Mutation, 25: 575-582, 2005.


• 18. Seznec H, Simon D, Bouton C, Reteunaeur L, Hertzog A, Golik P, Procaccio V, Patel M, Koenig M, Puccio H. Friedreich ataxia, the oxidative stress paradox. Human Molecular Genetics, 14:463-474, 2005.


• 19. Farge G, Touraille S, Lachaume P, Debise R, Procaccio V, Alziari S. Coordinated decreased of the expression of the mitochondrial and nuclear complex I genes in a mitochondrial mutant of drosophila. Journal of Bioenergetics and Biomembranes, 36: 203-210, 2004.


• 20. Procaccio V, Wallace DC. Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. Neurology, 62: 1899, 2004.


• 21. Ruiz-Pesini E, Mishmar D, Brandon M, Procaccio V, Wallace DC. Distinguishing the effect of purifying and adaptive selection on regional variation in human mtDNA. Science, 303: 223-226, 2004.


• 22. Gearing M, Juncos JL, Procaccio V, Gutekunst C-A, Marino E, Gyure KA, Ono S, Wallace DC, Wainer BH. Extensive aggregation of actin and ADF/cofilin in identical twin brother with juvenile-onset, dopa-unresponsive generalized dystonia. Annals of Neurology, 52: 465-476, 2002.


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