Purine and Pyrimidine Metabolism

by N. Kamatani, H. A. Jinnah, R. C M Hennekam, A. B P Van Kuilenburg
Reference Module in Biomedical Research ()
Get full text at journal

Abstract

Purine and pyrimidine nucleotides are essential for a vast number of biological processes such as RNA and DNA synthesis and as a component of high-energy nucleotides, e.g., ATP. Polygenic and monogenic diseases are associated with altered purine and pyrimidine metabolism; thus, the genes associated with gout have only minor effects on serum urate levels and the combination of such genetic factors as well as environmental factors cause the disease. Recent genome-wide association studies have identified such genes many of which code for transporters in renal tubules and related proteins. Monogenic diseases include enzyme abnormalities in the purine and pyrimidine pathways. Although most of the abnormalities were found by the candidate gene approach, Miller syndrome was found to be caused by the mutations in dihydroorotate dehydrogenase gene (DHODH) by whole exome sequencing. To date, more than 30 defects associated with purine and pyrimidine metabolism have been described. Inherited disorders of purine and pyrimidine metabolism have a wide variety of clinical presentations including anemia, immunodeficiency, renal stones, convulsions, mental retardation, autism, growth retardation, and serious adverse reactions to medication. For immunodeficiency caused by adenosine deaminase deficiency, enzyme replacement therapy and somatic gene therapy targeted at hematopoietic stem cells have been successful.

Cite this document (BETA)

Readership Statistics

32 Readers on Mendeley
by Discipline
 
75% Biological Sciences
 
9% Medicine
 
6% Chemistry
by Academic Status
 
31% Ph.D. Student
 
19% Student (Master)
 
9% Student (Bachelor)
by Country
 
6% United States
 
3% Slovakia
 
3% United Kingdom

Sign up today - FREE

Mendeley saves you time finding and organizing research. Learn more

  • All your research in one place
  • Add and import papers easily
  • Access it anywhere, anytime

Start using Mendeley in seconds!

Sign up & Download

Already have an account? Sign in