ABSTRACT
The HFE, H ferritin, TFR2, and ferroportin 1 genes of a Japanese patient diagnosed as having hemochromatosis were amplified by PCR and sequenced. A novel mutation in the ferroportin 1 was found in the patient. It was located in the noncoding region of the ferroportin 1; nucleotide 117 adenine was changed to guanine, 7 nucleotides downstream the iron responsive element (IRE) region. This mutation was not found in the patient's son or daughter, or in 50 healthy individuals. It was suggested that the mutation in the ferroportin 1 may be related to hemochromatosis of this patient.
Subject(s)
Cation Transport Proteins/genetics , DNA/genetics , Hemochromatosis/genetics , Point Mutation , Adult , Biopsy , Cation Transport Proteins/blood , Female , Follow-Up Studies , Hemochromatosis/blood , Hemochromatosis/diagnosis , Humans , Liver/diagnostic imaging , Liver/pathology , Magnetic Resonance Imaging , Pedigree , Polymerase Chain Reaction , Tomography, X-Ray ComputedABSTRACT
BACKGROUND/AIMS: Interleukin-12 plays an important role in anti-tumor immune response by induction of interferon-gamma production by T cells and NK cells, and by activation of cytotoxic T cells and NK cells. We evaluated interleukin-12-induced interferon-gamma production as one of the immunological markers of patients with chronic liver diseases. METHODOLOGY: Interleukin-12-induced interferon-gamma production was measured in vitro in peripheral blood mononuclear cells from 28 hepatocellular carcinoma patients, 10 liver cirrhosis patients, 14 chronic hepatitis patients and 16 healthy individuals. RESULTS: The hepatocellular carcinoma patients exhibited a reduced interleukin-12 responsiveness for interferon-gamma production compared to the liver cirrhosis patients, the chronic hepatitis patients and the healthy individuals. The reduced interferon-gamma production seemed to roughly reflect clinical stage in the hepatocellular carcinoma patients. The interferon-gamma production correlated with neither alpha-fetoprotein nor protein induced by vitamin K absence II. CONCLUSIONS: The level of interleukin-12-induced interferon-gamma production by peripheral blood mononuclear cells in the patients with hepatocellular carcinoma was significantly lower than that in the patients with liver cirrhosis which is thought to be a premalignant state. The measurement of interferon-gamma production may be useful in evaluating severity of chronic liver disease from an immunological point of view.
