Beverly S. Mitchell, M.D.

Publication Details

  • ELEVATED ADENOSINE-DEAMINASE ACTIVITY AND HEREDITARY HEMOLYTIC-ANEMIA - EVIDENCE FOR ABNORMAL TRANSLATIONAL CONTROL OF PROTEIN-SYNTHESIS JOURNAL OF CLINICAL INVESTIGATION CHOTTINER, E. G., Cloft, H. J., TARTAGLIA, A. P., Mitchell, B. S. 1987; 79 (3): 1001-1005

    Abstract:

    We have investigated the molecular basis of the marked elevation in erythrocyte adenosine deaminase (ADA) activity in a kindred with hereditary hemolytic anemia. Red cell ADA-specific activity was verified to be 70- to 100-fold normal levels. Western blots demonstrated a corresponding increase in erythrocyte ADA-specific immunoreactive protein. Analysis of genomic DNA revealed no evidence for amplification or major structural changes in the ADA gene. ADA-specific messenger RNA (mRNA) from proband reticulocytes was comparable in size and amount to mRNA from control reticulocytes. Translation of proband poly A+ reticulocyte mRNA in a rabbit reticulocyte lysate system and immunoprecipitation of 35S-labeled protein products with anti-ADA antibody yielded a band of approximately 42,000 apparent mol wt that was absent in translation products from control reticulocyte mRNAs. These data suggest that the increased ADA activity in red cells in this disorder results from the increased translation of an aberrant ADA mRNA.

    View details for Web of Science ID A1987G242500045

    View details for PubMedID 3029177

Stanford Medicine Resources:

Footer Links: