Klinik und Genetik des familiären Darmkrebses

Familial clustering of colorectal cancer (CRC) and early disease onset are indicators of an inherited tumour syndrome. Monogenic dispositions account for 3–5% of all CRC cases and are subdivided into hereditary non-polyposis colorectal cancer (HNPCC/Lynch syndrome) and various gastrointestinal polyposis syndromes. Many of these syndromes are characterised by a broad spectrum of extracolonic tumours. Early detection and accurate classification are essential in providing effective surveillance and treatment. Initial diagnosis is based on endoscopic and histological findings as well as on the presence of extracolonic manifestations and family history. Molecular genetic examination is important for the differential diagnosis, evaluation of recurrence risk, and predictive testing of asymptomatic at risk individuals; it is performed according to largely standardised algorithms. Diagnostic difficulties are common among the hamartomatous polyposes due to their broad phenotypic overlap and frequent uncertainties in histological evaluation, as well as among patients with few adenomas. Risk-adapted surveillance guidelines have been established for HNPCC and for the more frequently observed polyposis syndromes. Beyond established tumour syndromes, familial clustering of CRC (which is often of late onset) or the occurrence of few adenomas is likely to be based upon a multifactorial (complex) etiology. Although identification of the underlying genetic risk factors and biological pathways is still in the early stages, rapid progress is being made due to methodical developments such as genome-wide association studies and CNV analysis.     

Botanische Gärten in der Zeit des Kolonialismus. Auf der Jagd nach dem “Grünen Gold”

Plant Transfer and Botanical Gardens in Colonial Times A constant of economic history is the need of natural resources – in the past often of vegetable origin and available only from the countries of natural distribution. These countries often tried to protect their interests against the traders or users by declaring monopoles. Between these both poles botanic gardens acted very successfully and by far not according to modern ethic standards. Results of their activities were the transcontinental movements of plants and the initiation of new agricultural based industries. These should be exemplified by the British botanical gardens and species as tea shrub, rubber tree, and cinchona tree.     

Mitochondriale Erkrankungen

As outlined in other articles of this issue mitochondrial medicine is a complex area in clinical genetics. Due to the wide variability of clinical presentation in both pediatric and adult patients there are frequent constellations of symptoms that may suggest an underlying mitochondrial disorder. This is a challenge in genetic counseling because basically all patterns of inheritance have to be taken into account??including maternal transmission??but a straightforward genetic testing to confirm or exclude the suggested diagnosis is hampered by the immense genetic heterogeneity of the mitochondrial disease spectrum. This article focuses on a diagnostic strategy and specific aspects of genetic counseling in mitochondrial disorders.     

Morphogenesis and fate of the residual body in human spermiogenesis

Summary In the human testis the formation of the residual body of the spermatid and its morphological changes during and after spermiation were studied by means of electron microscopy. The caudal cytoplasmic mass of the late spermatid contains a Golgi complex, mitochondria, annulate lamellae, a chromatoid body, flower-like structures, ribosomes, a few large vacuoles, myelin-like membrane profiles and sporadic lipid droplets. When, by detachment of the caudal cytoplasm from the free spermatozoon, the residual body is formed, the chromatoid body has disappeared; the mitochondria are clustered peripherally; the ribosomes appear as a single complex in contact with a large vacuole containing granular material; in place of the Golgi complex aggregations of vesicles are present. The lipid droplets remain unchanged. The residual bodies or their fragments are either extruded via the seminiferous tubular lumen into the excurrent ducts or they are engulfed by Sertoli cells where in the supranuclear region the successive steps of decomposition can be observed. The participation of the various constituents in the disintegration of the residual body is discussed. In contrast to other mammalian species, in man the sporadic lipid droplets seem to be of minor importance in the fate of the residual body.     

Hu neuronal proteins are expressed in proliferating neurogenic cells

We have utilized immunochemical techniques to investigate the developmental expression of the Hu proteins, a neuron-specific family of RNA binding proteins in vertebrates. Previous work suggests that these proteins may play an important role in neuronal development and maintenance. For the present study, we developed a monoclonal antibody (MAb 16A11) that binds specifically to an epitope present in gene products of all known Hu genes, including HuD, HuC, and Hel-N1. Using brief pulses (1–2 h) of the DNA precursor analog bromodeoxyruridine (BrdU) in conjunction with MAb 16A11, we observed Hu⁺/BrU⁺ cells in nascent sensory and sympathetic ganglia in vivo, and in populations of cultured neural crest cells. In addition, a few Hu⁺ cells were ambiguously BrdU⁺ in the neural tube. We conclude that Hu+ cells first appear in avian neurogenic populations immediately before neuronal birthdays in the peripheral nervous system, and at the time of withdrawal from the mitotic cycle in the central nervous system. Consistent with these conclusions, we have also observed neural crest-derived cells that are both Hu+ and in metaphase of the cell cycle. We suggest that Hu proteins function early in neurogenic differentiation. 1994 John Wiley & Sons, Inc.     

Der Mann aus dem Eis

New scientific findings on the Iceman The Iceman, commonly referred to as Ötzi, is the world's oldest glacier mummy and one of the best studied ancient humans in the world. Since the discovery of the 5300-year-old Copper Age individual in 1991, at the Tisenjoch in the Eastern Italian Alps, a variety of morphological, radiological, and molecular analyses have been applied that revealed important insights into his ancestry, his life habits and the circumstances surrounding his violent death. In more recent research, the mummy was subjected to modern research methodologies focusing on high-throughput sequence analysis of ancient biomolecules (DNA, proteins, lipids) that are still found to be preserved in his mummified tissues. Thereby, a genetic predisposition for increased risk for coronary heart disease and the stomach pathogen Helicobacter pylori were detected. This application of innovative “-omics” technologies have allowed the reconstruction of his last meal, that was mainly composed of fat and game meat from wild animals supplemented with cereals from einkorn.