Sökning: "HFE gene"

Visar resultat 1 - 5 av 9 avhandlingar innehållade orden HFE gene.

1. 1. Clinical and experimental studies on HFE and other genes involved in iron homeostasis

   Författare :Petra Holmström; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Hereditary hemochromatosis; iron overload; HFE gene mutations; porphyria cutanea tarda; HFE gene; iron metabolism-related genes; iron homeostasis; liver; inflammation; and hepatocellular carcinoma;

   Sammanfattning : In this thesis, the clinical significance of HFE mutations was further investigated, and the molecular mechanisms underlying the disturbed iron homeostasis during hemochromatosis, inflammation and hepatocellular carcinoma were studied in experimental models. Hereditary hemochromatosis (HH) is a prevalent autosomal recessive iron overload disorder caused by increased intestinal absorption and deposition of iron in vital organs, leading to organ damage. LÄS MER

3. 2. Oxidants and antioxidants in cardiovascular disease

   Författare :Kim Ekblom; Johan Hultdin; Stefan L Marklund; Lars Breimer; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; first-ever acute myocardial infarction; first-ever stroke; bilirubin; iron; HFE genotypes; UGT1A1*28; prospective; risk factor; Cardiovascular medicine; Kardiovaskulär medicin; Epidemiology; Epidemiologi; Clinical Chemistry; klinisk kemi;

   Sammanfattning : Background Cardiovascular diseases, including myocardial infarction and stroke, are the main reason of death in Sweden and Western Europe. High iron stores are believed to produce oxygen radicals, which is the presumed putative mechanism behind lipid peroxidation, atherosclerosis and subsequent cardiovascular disease. LÄS MER

4. 3. Studies of proteins in heme and iron metabolism

   Författare :Vijole Dzikaite; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Iron; Heme; IRE IRP; Liver; eALAS; HFE;

   Sammanfattning : One aim of the study was to investigate the regulation of the murine erythroid isoform of aminolevulinate synthase (eALAS) protein involved in heme synthesis. Another aim was to characterize the structure of the rat hemochromatosis gene (HFE) gene and its expression in conjunction with other genes involved in the regulation of iron homeostasis during inflammation and iron overload in the rat liver. LÄS MER

5. 4. Congenital Dyserythropoietic Anemia type III (CDA III) : diagnostics, genetics and morbidity

   Författare :Maria Liljeholm; Anders Wahlin; Richard Rosenquist Brandell; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; congenital dyserythropoietic anemia; KIF23; hereditary hemochromatosis; iron overload; flow cytometry;

   Sammanfattning : The Congenital Dyserythropoietic Anemias (CDA) are rare hereditary hemolytic disorders with large bi- to multi-nucleated erythroblasts in the bone marrow. Hemolysis is negative in a direct antiglobulin test (DAT). Based on morphology and clinical picture, three major forms of CDAs, type I, II, and III have been defined. LÄS MER

7. 5. Importance of iron overload and steatosis in patients with chronic liver disease

   Författare :Joel Marmur; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : This thesis deals with the importance of hepatic iron and fat deposition in the context of chronicliver disease, with special focus on the role of the S65C mutation in the hemochromatosis cryptogenic cirrhosis (CC) in patients evaluated for liver transplantation, the expressions of innate and adaptive immunity in non-alcoholic steatohepatitis (NASH), and the role of the ironregulatory hormone hepcidin in dysmetabolic iron overload (DIO). NAFLD is the most common liver disease in the Western world. LÄS MER