Research Statement

Mitochondrial disorders often present in childhood with systemic disease, including cardiac, skeletal muscle, visual and neurologic symptoms. Nevertheless, we know little about how exactly bioenergetic defects lead to selective vulnerability of certain organs or cell populations, how cellular dysfunction may eventually cause injury and tissue damage, and which variables may affect the disease course. Dr. Ortiz-Gonzalez is interested in using iPSC technology to generate in vitro disease models to elucidate these questions.  Particularly, she is interested in examining cardiac and neural phenotypes from patients affected with mitochondrial diseases. The hope is that these patient-relevant models will also be instrumental in developing novel therapeutic strategies in the future.

Selected Publications

• Strauss KA,  DuBiner L,  Simon M, Zaragoza M,  Sengupta PP, Li P,  Narula N, Dreike S,  Platt J, Procaccio V, Ortiz-González XR, Puffenberger EG, Kelley RI, Morton DH, Narula J, and Wallace DC. “Severity of cardiomyopathy associated with Adenine Nucleotide Translocator-1 Null Mutation correlates with mtDNA haplogroup", PNAS
• Ortiz-Gonzalez XR, Poduri, A, Roberts, CM, Sullivan, JE, Marsh, ED, Porter, BE. “Focal cortical dysplasia is more common in boys than girls”, Epilepsy and Behavior,
• Hamamoto DT, Ortiz-Gonzalez XR, Honda JM, Kajander KC. "Intraplantar injection of hyaluronic acid at low pH into the rat hindpaw produces tissue acidosis and enhances withdrawal responses to mechanical stimuli." Pain 1998 Feb;74(2-3):225-234
• Ortiz-Gonzalez XR, Venneti, S*, Biegel, JA, Rorke-Adams, LB, Porter BE. “Ganglioglioma arising from dysplastic cortex” Epilepsia. 2011 Sep;52(9):e106-e108.
• Keene CD, Ortiz-Gonzalez XR, Jiang Y, Verfaillie CM and Low WC. “Therapeutic Applications of Bone Marrow–Derived Stem Cells in Neurologic Injury and Disease” chapter  in Cell Therapy, Stem Cells and Brain Repair, edited by Sandberg et. al. Humana Press, Sept 2006, pp 163-198.
• Burns TC*, Ortiz-González XR*, Gutiérrez Pérez M*, Keene CD, Sharda R, Demorest ZL, Jiang Y, Soriano M, Nakagawa Y, Luquin Piudo MR, Garcia-Verdugo JM, Prósper F, Low WC, Verfaillie CM  “Thymidine analogs are transferred from prelabeled donor to host cells in the central nervous system after transplantation: a word of caution”  Stem Cells. 2006 Apr;24(4):1121-7.
• Ortiz-Gonzalez XR, Keene CD, Verfaillie CM, Low WC.  “Neural induction of adult bone marrow and umbilical cord stem cells.” Curr Neurovasc Res. 2004 Jul;1(3):207-13.
• Keene CD*, Ortiz-Gonzalez XR*, Jiang Y, Largaespada DA, Verfaillie CM, Low WC. “Neural differentiation and incorporation of bone marrow-derived multipotent adult progenitor cells after single cell transplantation into blastocyst stage mouse embryos”. Cell Transplant. 2003;12(3):201-13.  
• Jiang Y, Jahagirdar BN, Reinhardt RL, Schwartz RE, Keene CD, Ortiz-Gonzalez XR, Reyes M, Lenvik T, Lund T, Blackstad M, Du J, Aldrich S, Lisberg A, Low WC, Largaespada DA, Verfaillie CM. “Pluripotency of mesenchymal stem cells derived from adult marrow”. Nature. 2002 Jul 4;418(6893):41-9.
• Olson TH, Riedl MS, Vulchanova L, Ortiz-Gonzalez XR, Elde R. "An acid sensing ion channel (ASIC) localizes to small primary afferent neurons in rats." Neuroreport 1998 Apr 20;9(6):1109-1113

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