6533b853fe1ef96bd12ac073
RESEARCH PRODUCT
Genetische Hämochromatose und das HFE-Gen: von der Molekulargenetik zur klinischen Diagnostik
G GerkenT Höhlersubject
congenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyMutationdigestive oral and skin physiologyGastroenterologynutritional and metabolic diseasesTransferrin receptorBiologymedicine.diseasemedicine.disease_causedigestive systemPathogenesisLoss of heterozygosityEndocrinologyDownregulation and upregulationInternal medicineMolecular geneticsmedicinePorphyria cutanea tardaskin and connective tissue diseasesHemochromatosisdescription
More than 90% of patients with genetic hemochromatosis carry a characteristic mutation in the HFE-gene (C282Y). HFE modulates the iron uptake by the transferrin receptor. Duodenal crypt cells of HFE-knockout mice show low intracellular iron concentrations which lead to an upregulation of the divalent metal transporter and enhanced iron uptake by duodenal enterocytes. Heterozygosity for the C282Y mutation appears to alter the course of other liver diseases like porphyria cutanea tarda and nonalcoholic steatohepatitis.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2000-06-01 | Zeitschrift für Gastroenterologie |