Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P02794 (ferritin)
 17,525 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This study assessed the biochemical status of a number of vitamins and iron in a group of new vegetarians. Values were compared with a group of omnivores of similar age. Satisfactory to high levels of serum folate, vitamin E, and riboflavin were found, and all were significantly higher in vegetarians than omnivores. Thiamin status was satisfactory in both groups although a small but statistically significant difference in favor of the omnivores was found. Serum vitamin B-12 was significantly lower in vegetarians, and iron status as measured by serum ferritin was very significantly lower in vegetarians. Pyridoxine status was similar in both groups. A number of sex differences were found in the vegetarian sample. New vegetarian women appear to be at particular risk of developing low iron stores.
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PMID:Vitamin and iron status in new vegetarians. 356 7

X-linked sideroblastic anemia (XLSA) is caused by mutations in the erythroid-specific 5-aminolevulinate synthase gene (ALAS2). XLSA was diagnosed in a 32-year-old woman with a mild phenotype and moderately late onset. Pyridoxine therapy had no effect in the proband, but in her affected son engendered a modest increase in hemoglobin concentration and a 4-fold reduction in ferritin iron. Molecular analysis identified a C to G transversion at nucleotide -206 from the transcription start site, as defined by primer extension, in the proximal promoter region of ALAS2. No other mutations were found in the promoter region, the flanking intronic sequences, the exons, or the 3' genomic region. The same mutation was found in her affected son but not in any other of her unaffected relatives. The mutation resulted in a 94% loss of activity relative to the wild-type sequence for a luciferase reporter construct containing the proximal 293 nucleotides (nt's) of the ALAS2 promoter when transfected into human erythroid K562 cells. Confirming the mutation's deleterious effect, the ALAS2 mRNA level in the proband's erythroid precursors was reduced 87%. The mutation occurred in or near 3 different putative transcription factor binding sites of unknown erythroid importance. The dramatic decreases in reporter activity and mRNA level suggest that the region of the mutation may bind a novel and important erythroid regulatory element.
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PMID:A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia. 1266 58