| Assistant Professor |
Office Address
Meyer 4-158
600 North Wolfe Street
Baltimore, MD 21287
Phone: 410-614-5377
Fax: 443-287-0600
Email: vcolomer@jhu.edu
Education
1983 | B.S. | Institute of Biomedical Research, University of Mexico City (UNAM), Mexico |
1990 | Ph.D. | Department of Parasitology, New York University Medical Center |
1990-1994 | Postdoctoral Fellowship | Department of Cell Biology, New York University Medical Center |
Professional Interests
The ultimate goal of my research team is to develop a therapy for Machado-Joseph disease, or spinocerebellar ataxia type 3. Machado-Joseph disease is a hereditary neurodegenerative and movement coordination disorder resulting from a polyglutamine expansion in ataxin-3 (mutant ataxin-3). We have generated transgenic expressing mutant ataxin-3. In brains of these transgenic mice and patients, we have identified a putative-cleavage fragment of mutant ataxin-3. The fragment is more abundant in brain regions that undergo severe neurodegeneration suggesting that its toxicity is concentration dependent; we confirmed this hypothesis using a cell model (Goti et al, 2004). The fragment is lacking in apoptotic testicular cells suggesting that it is brain specific and generated prior to apoptosis (Colomer Gould, 2005). Currently, we are attempting to identify the enzyme that releases the toxic cleavage fragment. Such enzyme could be a target for therapy of Machado-Joseph disease.
Selected Publications
Goti D., Katzen S.M., Mez J., Kurtis N., Kiluk J., Ben-Haïem L., Jenkins N.A., Copeland N., Kakizuka A., Sharp A.H., Ross C.A., Mouton P. R., and Colomer V. A Mutant Ataxin-3 Putative-Cleavage Fragment in Brain of Machado-Joseph Disease Patients and Transgenic Mice Is Cytotoxic Above a Critical Concentration. Journal of Neuroscience. 2004; (24): 10266-10279.
Colomer Gould V.F. Mouse models of Machado-Joseph disease and other polyglutamine spinocerebellar ataxias. NeuroRx. 2005; (2): 480-483.
Colomer Gould V.F., Goti D., Kiluk J. A neuroendocrine dysfunction, not testicular mutant ataxin-3 putative-cleavage fragment or aggregate, causes cell death in testes of transgenic mice. Cell Death and Differentiation (Nature group). 2006; (Nov 11): 1-3.
Colomer Gould VF, Goti D, Pearce D, Gonzalez G, Gao H, Bermudez de Leon M, Jenkins NA, Copeland N, Ross CA, and Brown DR. A Mutant Ataxin-3 Fragment Results From Processing at a Site N-terminal to Amino Acid 190 in Brain of Machado-Joseph Disease-Like Transgenic Mice. Neurobiology of Disease 2007;27: 362-9.
