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The goal of the Section on Genetics and Endocrinology's (SEGEN
) work is to understand the genetic and molecular mechanisms leading to disorders that affect the adrenal cortex, with emphasis on those that are hereditary and associated with multiple tumors and abnormalities in other endocrine glands (i.e. the pituitary gland) and tissues of neuroectodermal origin (i.e. the melanocytes).
Our laboratory has studied families with Carney complex (CC) (also known as the "complex of myxomas, spotty skin pigmentation, endocrine overactivity and schwannomas") and related syndromes.
Through genetic linkage analysis, the participation of the two genomic loci harboring genes for CC (on chromosomes 2 and 17) in the expression of the disease is being investigated. A comprehensive genetic and physical map of the 2p16 chromosomal region was constructed for the cloning of CC-causing gene(s).
Studies in cultured primary tumor cell lines (established from our patients) identified a region of amplification in the center of this map. A new method was described by Dr. Kirschner for the use of bacterial artificial chromosomes (BACs); novel genes, including a G-protein coupled receptor, have been identified by our laboratory and its collaborators. In collaboration with Mayo Clinic, the genetic defects in patients with CC-related syndromes (i.e. Peutz-Jeghers syndrome) are being identified.
A genome wide screen is also ongoing in our laboratory for the identification of the gene(s) responsible for inherited adrenocortical aldosteronomas (familial hyperaldosteronism type-II); additional work is being done collaboratively on the genetics of childhood adrenocortical cancer and pituitary tumors.
Dr. Stratakis also the Program Director for Pediatric Endocrinology at the NIH and a member of the Medical Advisory Board for the Cushing's Support and Research Foundation.
Recent SEGEN press releases:
- Gene Variations That Alter Key Enzyme Linked to Prostate Cancer
- Phosphodiesterase 11A (PDE11A) Genetic Variants May Increase Susceptibility to Prostatic Cancer. (2011) Faucz FR, Horvath A, Rothenbuhler A, Almeida MQ, Libé R, Raffin-Sanson M-L, Bertherat J, Carraro DM, Soares FA, Molina Gde C, Campos AH, Alexandre RB, Bendhack ML, Nesterova M, and Stratakis CA. J Clin Endocrinol Metab. 2011 Jan;96(1):E135-40.
- Video: Dr. Stratakis discusses the study's findings
- NIH researchers link rare cancer to cell oxygen deficiency
- Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. (2011) Janeway KA, Kim SY, Lodish M, Nosé V, Rustin P, Gaal J, Dahia PLM, Liegl B, Ball ER, Raygada M, Lai AH, Kelly L, Hornick JL, NIH Pediatric and Wild-Type GIST Clinic, O'Sullivan M, de Krijger RR, Dinjens WNM, Demetri GD, Antonescu CR, Fletcher JA, Helman L, and Stratakis CA. Proc Natl Acad Sci U S A. 2011 Jan 4;108(1):314-8.
For older news, please see the News Archive.
For further information on gastrointestinal stromal tumor research visit GIST Support International