Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004135 (ATM)
 13,001 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Alpha1-fetoprotein (AFP) is an alpha1-glycoprotein which can be found in high concentration during fetal development in many mammals, birds, sharks and, also, man. The alpha-fetoproteins of various species have similar physico-chemical properties and often common antigenic determinants. Differences of microheterogeneity depend on a different content of sialin-acid. During human fetal development the serum AFP concentration falls with increasing gestational age. 4-5 weeks after birth AFP can be detected usually in low serum concentrations. Using more sensitive immunulogic techniques e.g. radioimmunoassay there was shown that AFP is present in sera of normal adults in concentrations of 10-20 ng/ml. AFP serum concentrations rise physiologically during pregnancy up to 500-550 ng/ml. During fetal development liver, yolk sac and gastrointestinal tract are the major sites of synthesis. In primary liver cell carcinoma, hepatoblastoma and in teratoblastoma containing yolk sac tissue AFP synthesis rises in tumor cells; the AFP serum concentration increases above 2 microgram/ml. In patients with benign liver diseases e.g. virus hepatitis, a transient rise of AFP serum concentrations was seen. Moreover, increased levels of AFP were found in hereditary diseases e.g. congenital tyrosinemia, ataxia-telangiectasia and in the amniotic fluid in congenital nephrosis of Finnish type. AFP assay in serum is clinically important for the control of course and treatment of primary liver cell carcinoma and teratoblastoma. AFP assay in amniotic fluid is a method for the prenatal detection of neural tube defects and the fetal distress syndrome, especially.
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PMID:[Alpha1-fetoprotein: physiology, pathology and diagnosis especially in childhood (author's transl)]. 7 May 46

This editorial calls for development of quantitative assays for alpha fetoprotein (AFP) which incorporate a long-overdue uniform international standard for AFP. Statistics for presently available detection techniques are reviewed; Double-gel diffusion detects serum AFP in 1/3 white hepatoma patients and 1/3 embryonal gonadal teratoblastomas. Counterimmunoelectophoresis and electroimmunodiffusion detect AFP in more than 50% of white patients with hepatoma and a higher percentage of other racial groups. Sensitive radioimmunoassays (RIAs) can detect AFP in 85-95% of hepatoma patients; the other 5-15% are considered at present not to have AFP-producing tumors. RIAs also discern AFP in 2 other conditions; 1) gastrointestinal tract tumors and entodermally derived tumors; and 2) acute viral hepatitis. AFP in newborns is usually 1-5 mg/100 ml of blood. This level decreases (half-life, 3-5 days) during neonatancy to undetectable levels. AFP is elevated in children with 3 conditions: 1) hepatocellular carcinoma of hepatoblastoma; 2) gonadal teratoblastomas or embryonal carcinoma; and 3) ataxia telangiectasia, but not in other immune deficiency diseases. During gestation, fetal serum AFP reaches a 200-400 mg/100 ml of blood peak in the first trimester which drops to less than 5 mg/100 in newborn unbilical blood. Elevated maternal serum AFP has been shown to mark fetal distress and other pregnancy complications; these amounts are measured in nanorams and require sensitivity.
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PMID:Editorial: Alpha 1-fetoprotein: need for quantitative assays. 412 24

Patients with ataxia-telangiectasia (A-T) have an increased risk of developing malignancies and are prone to severe early or late toxicity owing to chemotherapy. Leukemia and lymphoma account for about 85% of malignancies, but solid tumors have also been reported. We describe an unusual case of an 8-year-old child affected by A-T, who presented a primary hepatic B-cell non-Hodgkin lymphoma, treated with reduced doses of R-CHOP cycles plus rituximab. Three years later, the patient developed hepatoblastoma as a second malignancy. This case clearly emphasizes the need for intensive monitoring of A-T patients for early signs of malignancy and the opportunity to consider specific and modified regimens of chemotherapy.
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PMID:Hepatic non-Hodgkin lymphoma and hepatoblastoma complicating ataxia-telangiectasia. 2145 28

To investigate the genotoxicity and reveal the potential toxicological mechanisms of Hexabromocyclododecane (HBCD), human breast cells HBL-100 were exposed to a sequence of HBCD concentrations (0, 5, 10, and 50 mg/L) for 24 h. With a series of zymology and molecular biology methods, we found that HBCD induced dose-dependent oxidative stress on HBL-100 DNA. As revealed in qRT-PCR, activated prognostic factor ATM down-regulated tumor suppressor gene BRCA1 and prompted DNA repair genes hOGG1 and hMTH1 expression in lower concentrations of HBCD (< 10 mg/L). However, DNA repair were inhibited as well as cell proliferation rate by higher concentrations of HBCD (50 mg/L). The results inferred that the genotoxicity of HBCD was dose-dependent and related to DNA repair pathway.
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PMID:Hexabromocyclododecane-induced Genotoxicity in Cultured Human Breast Cells through DNA Damage. 2849 39