Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia

Mol Cell Biol. 2004 Jan;24(2):527-36. doi: 10.1128/MCB.24.2.527-536.2004.

Abstract

Adult-onset type II citrullinemia (CTLN2) is an autosomal recessive disease caused by mutations in SLC25A13, the gene encoding the mitochondrial aspartate/glutamate carrier citrin. The absence of citrin leads to a liver-specific, quantitative decrease of argininosuccinate synthetase (ASS), causing hyperammonemia and citrullinemia. To investigate the physiological role of citrin and the development of CTLN2, an Slc25a13-knockout (also known as Ctrn-deficient) mouse model was created. The resulting Ctrn-/- mice were devoid of Slc25a13 mRNA and citrin protein. Liver mitochondrial assays revealed markedly decreased activities in aspartate transport and the malate-aspartate shuttle. Liver perfusion also demonstrated deficits in ureogenesis from ammonia, gluconeogenesis from lactate, and an increase in the lactate-to-pyruvate ratio within hepatocytes. Surprisingly, Ctrn-/- mice up to 1 year of age failed to show CTLN2-like symptoms due to normal hepatic ASS activity. Serological measures of glucose, amino acid, and ammonia metabolism also showed no significant alterations. Nitrogen-loading treatments produced only minor changes in the hepatic ammonia and amino acid levels. These results suggest that citrin deficiency alone may not be sufficient to produce a CTLN2-like phenotype in mice. These observations are compatible, however, with the variable age of onset, incomplete penetrance, and strong ethnic bias seen in CTLN2 where additional environmental and/or genetic triggers are now suspected.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acids / metabolism
  • Ammonia / metabolism
  • Animals
  • Argininosuccinate Synthase / metabolism
  • Aspartic Acid / metabolism
  • Base Sequence
  • Citrullinemia / genetics*
  • Citrullinemia / metabolism*
  • DNA / genetics
  • Disease Models, Animal
  • Female
  • Gluconeogenesis
  • Humans
  • Liver / metabolism
  • Male
  • Membrane Transport Proteins / deficiency*
  • Membrane Transport Proteins / genetics*
  • Mice
  • Mice, Knockout
  • Mitochondrial Membrane Transport Proteins
  • Mitochondrial Proteins / deficiency*
  • Mitochondrial Proteins / genetics*
  • Mutation
  • NAD / metabolism
  • Phenotype
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Urea / metabolism

Substances

  • Amino Acids
  • Membrane Transport Proteins
  • Mitochondrial Membrane Transport Proteins
  • Mitochondrial Proteins
  • RNA, Messenger
  • SLC25A13 protein, human
  • Slc25a13 protein, mouse
  • NAD
  • Aspartic Acid
  • Ammonia
  • Urea
  • DNA
  • Argininosuccinate Synthase