Metabolic and immunologic consequences of limited adenosine deaminase expression in mice

J Biol Chem. 1996 Jun 21;271(25):15203-10. doi: 10.1074/jbc.271.25.15203.

Abstract

Adenosine deaminase (ADA; EC 3.5.4.4) deficiency in humans is an autosomal recessive genetic disorder that results in severe combined immunodeficiency disease. ADA-deficient mice generated by targeted gene disruption die perinatally, preventing postnatal analysis of ADA deficiency. We have recently rescued ADA-deficient fetuses from perinatal lethality by expression of an ADA minigene in the placentas of ADA-deficient fetuses, thus generating postnatal mice admissible to analysis of ADA deficiency. The minigene used also directed ADA expression to the forestomach postnatally, producing adult animals that lacked ADA enzymatic activity in all tissues outside the gastrointestinal tract. Mice with limited ADA expression exhibited profound disturbances in purine metabolism, including thymus-specific accumulations of deoxyadenosine and dATP, and inhibition of S-adenosylhomocysteine hydrolase in the thymus, spleen, and, to a lesser extent, the liver. Lymphopenia and mild immunodeficiency were associated with these tissue-specific metabolic disturbances. These mice represent the first genetic animal model for ADA deficiency and provide insight into the tissue-specific requirements of ADA.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenosine Deaminase / biosynthesis*
  • Adenosine Deaminase / deficiency*
  • Adenosine Deaminase / genetics
  • Adenosylhomocysteinase
  • Aging / metabolism*
  • Animals
  • B-Lymphocytes / immunology*
  • Cells, Cultured
  • Death
  • Genotype
  • Hydrolases / metabolism
  • Immunologic Deficiency Syndromes / enzymology*
  • Immunologic Deficiency Syndromes / genetics
  • Lymphocyte Activation*
  • Mice
  • Mice, Knockout
  • Mice, Mutant Strains
  • Nucleosides / metabolism
  • Nucleotides / metabolism
  • Organ Specificity
  • Spleen / immunology
  • T-Lymphocytes / immunology*

Substances

  • Nucleosides
  • Nucleotides
  • Hydrolases
  • Adenosylhomocysteinase
  • Adenosine Deaminase