Contact: Will Sansom
|Patricia Dahia, M.D., Ph.D., an assistant professor, began the international Consortium for Pheochromocytoma several years ago. The consortium studied the TMEM127 gene.|
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SAN ANTONIO (July 26, 2010) — Researchers at The University of Texas Health Science Center at San Antonio have found a gene that, when mutated, causes one type of adrenal cancer.
The adrenal glands, one located above each kidney, release dozens of hormones that regulate the body’s response to stress. Adrenaline, for example, regulates heart rate, blood pressure, sweating and other physiological responses. The adrenal glands also maintain proper balances of fluids and electrolytes.
About 800 cases of an adrenal cancer called pheochromocytoma are diagnosed annually in the U.S. Understandings gleaned from the discovery of a new cancer gene, called TMEM127, may extend to patients with other cancers, said Patricia Dahia, M.D., Ph.D., assistant professor in the Health Science Center’s hematology and medical oncology division.
She is a member of the Cancer Therapy & Research Center (CTRC) at the UT Health Science Center and works with the CTRC Cancer Development and Progression Program. The CTRC is a National Cancer Institute-designated Cancer Center.
Gene can affect families or individuals
|This image shows the Adrenal Medula, where the pheochromocytoma tumors form. |
TMEM127 normally suppresses tumor formation, but abnormal TMEM127 contributes to pheochromocytoma, which is a tumor of nerve-like cells on the adrenal gland. “This tumor can appear in families or in single individuals and we found TMEM127 mutations in both cases,” Dr. Dahia said. “It is mutated only in individuals who develop the tumor but not in normal individuals or healthy relatives of patients.”Tracking patients who have the gene can provide earlier treatment
Discovery of a cancer gene has important implications for diagnosis. Patients who carry the TMEM127 mutation are at a higher risk for development of a tumor. “These patients can be clinically followed more closely and a tumor can be identified at very early stages of development, when the chances of cure are greater,” Dr. Dahia said.Research being broadened to study families
Relatives can be screened for the same mutation and diagnosed early, as well. The team is broadening its studies to determine which other tumors have TMEM127 mutations.
“This study highlights the idea that some tumors thought of as sporadic (not running in families) may have a ‘disguised’ hereditary factor,” Dr. Dahia said. “This has important implications not only for patients themselves but for their family members.”
The study also found a link between TMEM127 function and a molecule known to be involved in cancer and aging, mTOR. TMEM127 might reduce mTOR function in the body, findings suggest. “TMEM127’s physiological effects, therefore, may be quite broad in cancer and possibly in aging and metabolic disorders,” Dr. Dahia said.
The study, published in Nature Genetics
earlier this year, was an international collaborative effort that involved many investigators, both at the Health Science Center and outside, as part of an international Consortium for Pheochromocytoma that Dr. Dahia established several years ago. Study collaborators
Health Science Center collaborators include Ricardo Aguiar, M.D., Ph.D., assistant professor of hematology and medical oncology in the School of Medicine, and James Lechleiter, Ph.D., professor of cellular and structural biology in the Graduate School of Biomedical Sciences.
Lead author of the paper was Yuejuan Qin, M.D., Ph.D. Li Yao and Elizabeth King, M.D., served as co-authors. All three worked as research fellows in Dr. Dahia’s laboratory when the study was conducted. Dr. Qin is a research scientist in the Division of Hematology and Medical Oncology, and Dr. King is an assistant professor in the Division of Endocrinology and a member of UT Medicine San Antonio, the School of Medicine’s faculty practice.
Funding for the study was provided by the Max and Minnie Tomerlin Voelcker Fund, the Sidney Kimmel Cancer Research Foundation, the CTRC and the Health Science Center’s Clinical and Translational Science Award from the National Institutes of Health.# # #The University of Texas Health Science Center at San Antonio
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