Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis

Nature. 2015 Nov 19;527(7578):379-383. doi: 10.1038/nature15529. Epub 2015 Nov 11.

Abstract

Cancer cells hijack and remodel existing metabolic pathways for their benefit. Argininosuccinate synthase (ASS1) is a urea cycle enzyme that is essential in the conversion of nitrogen from ammonia and aspartate to urea. A decrease in nitrogen flux through ASS1 in the liver causes the urea cycle disorder citrullinaemia. In contrast to the well-studied consequences of loss of ASS1 activity on ureagenesis, the purpose of its somatic silencing in multiple cancers is largely unknown. Here we show that decreased activity of ASS1 in cancers supports proliferation by facilitating pyrimidine synthesis via CAD (carbamoyl-phosphate synthase 2, aspartate transcarbamylase, and dihydroorotase complex) activation. Our studies were initiated by delineating the consequences of loss of ASS1 activity in humans with two types of citrullinaemia. We find that in citrullinaemia type I (CTLN I), which is caused by deficiency of ASS1, there is increased pyrimidine synthesis and proliferation compared with citrullinaemia type II (CTLN II), in which there is decreased substrate availability for ASS1 caused by deficiency of the aspartate transporter citrin. Building on these results, we demonstrate that ASS1 deficiency in cancer increases cytosolic aspartate levels, which increases CAD activation by upregulating its substrate availability and by increasing its phosphorylation by S6K1 through the mammalian target of rapamycin (mTOR) pathway. Decreasing CAD activity by blocking citrin, the mTOR signalling, or pyrimidine synthesis decreases proliferation and thus may serve as a therapeutic strategy in multiple cancers where ASS1 is downregulated. Our results demonstrate that ASS1 downregulation is a novel mechanism supporting cancerous proliferation, and they provide a metabolic link between the urea cycle enzymes and pyrimidine synthesis.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Argininosuccinate Synthase / deficiency*
  • Argininosuccinate Synthase / metabolism
  • Aspartate Carbamoyltransferase / metabolism
  • Aspartic Acid / metabolism*
  • Calcium-Binding Proteins / antagonists & inhibitors
  • Calcium-Binding Proteins / metabolism
  • Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing) / metabolism
  • Cell Line, Tumor
  • Cell Proliferation
  • Citrullinemia / metabolism
  • Cytosol / metabolism
  • Dihydroorotase / metabolism
  • Down-Regulation
  • Enzyme Activation
  • Humans
  • Male
  • Mice
  • Mice, SCID
  • Neoplasms / enzymology
  • Neoplasms / metabolism*
  • Neoplasms / pathology
  • Organic Anion Transporters / antagonists & inhibitors
  • Organic Anion Transporters / metabolism
  • Phosphorylation
  • Pyrimidines / biosynthesis*
  • TOR Serine-Threonine Kinases / metabolism

Substances

  • Calcium-Binding Proteins
  • Organic Anion Transporters
  • Pyrimidines
  • citrin
  • Aspartic Acid
  • Aspartate Carbamoyltransferase
  • TOR Serine-Threonine Kinases
  • Dihydroorotase
  • Argininosuccinate Synthase
  • Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing)
  • pyrimidine