AMPD1 C34T mutation selectively affects AMP-deaminase activity in the human heart

K. K. Kalsi, A. H.Y. Yuen, P. H. Johnson, E. J. Birks, M. H. Yacoub, R. T. Smolenski

Research output: Contribution to journalArticlepeer-review

6 Scopus citations

Abstract

Possession of the nonsense mutation in AMPD1 C34T gene has been linked to improved survival in patients with heart failure, possibly by promoting the formation of adenosine. This mutation is known to decrease the activity of AMP-deaminase in skeletal muscle. We have found that the AMPD1 mutation decreases the activity of AMP-deaminase in the heart without changing the activity of any other enzymes of adenine nucleotide metabolism. Protective mechanism of this mutation may be thus induced by local cardiac metabolic changes.

Original languageEnglish
Pages (from-to)287-288
Number of pages2
JournalNucleosides, Nucleotides and Nucleic Acids
Volume24
Issue number4
DOIs
StatePublished - 2005

Keywords

  • AMP-deaminase
  • Adenosine
  • C34T Mutation
  • Human Heart

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Genetics

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