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Phenotypic and genetic analysis in animal models and humans with type 1 diapetes or metabolic syndrome : unraveling complex mammalian diseases

  • The insulin dependent type 1 diabetes mellitus (IDDM) and the metabolic syndrome are complex human diseases. Both diseases are heterogeneous, genetically inherited and do not follow a simple Mendelian single-locus pattern. The analysis of complex human diseases is complicated both by genetic heterogeneity and by environmental factors. One way to overcome the problem of genetic heterogeneity in humans may be to cluster patients by kinship. It was shown by analysis of maternal lines of type 1 diabetics using mitochondrial DNA that 89% of maternal lines are related to each other. Moreover, an alternative to the genetic differential analysis of complex mammalian diseases is the use of animal models. The availability of inbred animal models closely resembling the human disease is an essential component of genetic investigations in this field, as shown in the results of this work. These findings do not only underscore the utility of the congenic and subcongenic approach in differentially analyzing complex traits, but also show that candidate genes can be identified and that chromosomal exchange can variously influence the phenotype, leading to sub-phenotypes which may be representative for human beings. Furthermore, it will also be possible to locate the syntenic region in the human genome and congenic and subcongenic strains can also be used to study interactions between chromosomal regions and various selected environmental conditions. In this way, it may be possible to learn which region can be influenced by environmental factors and to which extent, an undertaking which will require prospective projects.
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Author: Nora Klöting
Title Additional (English):keine Angaben
Title Additional (German):keine Angaben
Advisor:Prof. Dr. Ingrid Klöting
Document Type:Doctoral Thesis
Date of Publication (online):2006/07/12
Granting Institution:Ernst-Moritz-Arndt-Universität, Medizinische Fakultät (bis 2010)
Date of final exam:2005/01/20
Release Date:2006/07/12
Tag:Animal models; Glycemic control; Metabolic syndrome
GND Keyword:Diabetes mellitus
Faculties:Universitätsmedizin / Institut für Pathophysiologie
DDC class:600 Technik, Medizin, angewandte Wissenschaften / 610 Medizin und Gesundheit