search

Divisions & Programs Medical Education Residency & Fellowships Research Faculty Contact

UCIHS HOME
UCI HOME

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


• Please also visit Dr. Camacho at:
• http://mitomed.bio.uci.edu/researchlab/jose.html
  
• EDUCATION


• Medical School Education:
• University of Central Del Caribe


• Internship:
• University of Missouri, Columbia - Pediatrics


• Fellowship:
• University of Iowa - Cardiology
• Long Island Jewish Hospital - Cardiology
• Johns Hopkins University - Human Genetics


• MEMBERSHIPS & AFFILIATIONS


• Board Certifications:
• American Board of Pediatrics


• RESEARCH


• Interests:
• The Hyperornithinemia-Hyperammonemia -Homocitrullinuria (HHH) Syndrome as a disease model to understand the role of the Mitochondrial Carrier Family (MCF) of proteins in health and disease
• Mitochondrial amino acid transporters


• Overview:
• The HHH Syndrome is a disorder of the urea cycle and ornithine degradation pathway caused by a deficiency in the mitochondrial ornithine transporter, ORNT1. Human ORNT1 is a member of the Mitochondrial Carrier Family (MCF) of proteins that includes the ADP/ATP, citrate, uncoupling protein and carnitine/acyl-carnitine transporters. Most patients with HHH syndrome have a later onset and milder presentation when compared to patients with deficiencies in ornithine transcarbamylase (OTC) that usually present with neonatal hyperammonemic coma. Interestingly, many HHH patients with the same genotype tend to have quite a variable phenotype. We believe this difference in phenotype is in part related to the existence of additional mitochondrial transporters with redundant function to ORNT1 and perhaps to differences in their mitochondrial background.
  
  We have isolated two mitochondrial transporters ORNT2 and PFDT-2 that can rescue the deficient ornithine transport of cultured fibroblasts from HHH patients. We hypothesize the existence of additional MCF proteins that belong to a family of cationic amino acid transporters that include the lysine, arginine and histidine transporters. Interestingly, recent studies have shown that the PFDT-2 transporter can also rescue cells that harbor a mutation in the mitochondrial carnitine transporter.
  
  The aims of my research are: 1) To determine the mechanisms of phenotypic variability of HHH patients. This includes the discovery of additional MCF proteins that have redundant function to human ORNT1. Some of these transporters with redundant function to human ORNT1 could eventually be used to rescue the disease phenotype of HHH patients. 2) To determine the factors (development, diet, drugs and hormones) that can regulate the expression and activity of the genes involved in ornithine transport across the inner mitochondrial membrane. 3) To determine how the deficient mitochondrial ornithine transport affects mitochondrial function of HHH patients (i.e. OXPHOS, physiology of the mitochondrial transition pore and calcium handling) and 4) To discover and study MCF proteins which are involved in amino acid transport.


• SELECTED PUBLICATIONS:


• 1. Camacho J, Mardach R, Rioseco-Camacho N, Ruiz-Pesini E, Derbeneva O, Andrade D, Zaldivar, Qu Y, Cederbaum S: Clinical and functional characterization of a human ORNT1 mutation (T32R) in the Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome. Pediatric Research 60:423-429, 2006,


• 
  

News | Administration | Patient Privacy | Disclaimer | Contact Webmaster

© 2005 The Regents of the University of California. All rights reserved.