Our research projects address hereditary endocrine diseases (Congenital Adrenal Hyperplasia, Hyperparathyroidism) and cancer syndromes (Multiple Endocrine Neoplasia I and II). We focus on identification and characterisation of germline and tissue specific genetic aberrations (mutations and polymorphisms) concerning their influcence on molecule function and disease expression. Epigenetic mechanisms (gene silencing, promoter methylation) as well as tumor associated marker molecules are studied in order to identify the molecular mechanism involved in the initiation and formation of malign versus benign tumors.
Moreover we concentrate on the development of new methodologies and identification of genetic markers in order to improve the current diagnostic procedures and to thus positively influcence genetic counseling and treatment of patients with rare endocrine disorders.
Methods & Techniques
Molecular genotyping, PCR, MLPA (multiplex ligation dependent probe amplification), RT-PCR, sequencing, methylation-analysis, Western- and Southern Blot, isolation and culture of cells originating from different micro- and macrovascular tissues, prolifertion- and apoptosis assays, immunhistochemistry
Németh S, Riedl S, Kriegshäuser G, Baumgartner-Parzer S, Concolino P, Neocleous V, Phylactou LA, Borucka-Mankiewicz M, Onay H, Tukun A, Oberkanins C: Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone. Clin Chim Acta 2012 Sep 14. pii: S0009-8981(12)00448-2. doi: 10.1016/j.cca.2012.09.013. [Epub ahead of print]
Lampichler K, Ilhan A, Lang R, Daneva T, Wagner L, Knosp E, Niederle B, Baumgartner-Parzer SM: Evaluation of MEN1 risk in individuals bearing R171Q. R171Q - single nucleotide polymorphism (SNP) or not SNP - that is the question. Clin Endocrinol (Oxf) 75: 274, 2011
Kleinle S, Lang R, Fischer GF, Vierhapper H, Waldhauser F, Födinger M, Baumgartner-Parzer SM: Duplications of the functional CYP21A2 gene are primarily restricted to Q318X alleles: evidence for a founder effect. J Clin Endocrinol Metab: 3954-3958, 2009
Artwohl M, Muth K, Kosulin K, de Martin R, Hölzenbein T, Rainer G, Freudenthaler A, Huttary N, Schmetterer L, Waldhäusl WK, Baumgartner-Parzer SM: R-(+)-alpha-lipoic acid inhibits endothelial cell apoptosis and proliferation: involvement of Akt and retinoblastoma protein/E2F-1. Am J Physiol (Endocrinol Metab) 293: E681-689, 2007
Baumgartner-Parzer SM, Fischer G, Vierhapper H: Predisposition for de novo gene aberrations in the offspring of mothers with a duplicated CYP21A2 gene. J Clin Endocrinol Metab 92: 1164-1167, 2007