caa a22 4500 44536453X CHVBK 20180317142925.0 cr unu---uuuuu 170323e20110801xx s 000 0 eng 10.1007/s10048-011-0280-y doi (NATIONALLICENCE)springer-10.1007/s10048-011-0280-y Müller Ulrich Institut für Humangenetik, Justus-Liebig-Universität, Gießen, and bio.logis, Zentrum für Humangenetik, Frankfurt a.M., 35392, Giessen, Germany aut Pathological mechanisms and parent-of-origin effects in hereditary paraganglioma/pheochromocytoma (PGL/PCC) [Elektronische Daten] [Ulrich Müller] Paragangliomas/pheochromocytomas (PGL/PCC) are tumors of the paraganglia. They can occur sporadically, as one sign in a hereditary (tumor) syndrome or as the only manifestation in hereditary PGL/PCC. To date, five forms of hereditary PGL/PCC have been described. They are inherited as autosomal dominant traits and are caused by mutations in genes required for structure and function of complex II of the respiratory chain (succinate-ubiquinone oxidoreductase, succinate dehydrogenase, SDH). Mutations in genes encoding the small subunits of SDH, i.e., SDHD and SDHC, cause PGL1 and PGL3. Mutations in the large subunit genes SDHB, SDHA (currently only one case), and in SDHAF2 cause PGL4, 5, and 2, respectively. This article gives an overview of PGL/PCC in the context of the anatomy and function of paraganglia. It describes SDH, the genes encoding SDH, and provides information on genetic mechanisms in hereditary PGL/PCC. A model is proposed to explain exclusive paternal inheritance and loss of the maternal (putatively imprinted) allele as a prerequisite for tumor formation in PGLs 1 and 2. Springer-Verlag, 2011 Hereditary paraganglioma/pheochromocytoma nationallicence Maternal imprinting nationallicence Tumorigenesis nationallicence Cellular hypoxia nationallicence SDHA nationallicence SDHB nationallicence SDHC nationallicence SDHD nationallicence SDHAF2 nationallicence Succinate-ubiquinone oxidoreductase nationallicence Complex II nationallicence Partial imprinting nationallicence neurogenetics Springer-Verlag 12/3(2011-08-01), 175-181 1364-6745 12:3<175 2011 12 10048 https://doi.org/10.1007/s10048-011-0280-y text/html Onlinezugriff via DOI 1 review-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10048-011-0280-y text/html Onlinezugriff via DOI NATIONALLICENCE 100 1- Müller Ulrich Institut für Humangenetik, Justus-Liebig-Universität, Gießen, and bio.logis, Zentrum für Humangenetik, Frankfurt a.M., 35392, Giessen, Germany aut NATIONALLICENCE 773 0- neurogenetics Springer-Verlag 12/3(2011-08-01), 175-181 1364-6745 12:3<175 2011 12 10048 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer