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

Abstract

Possession of the nonsense mutation in AMPD 1 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.

• Authors: K K Kalsi, A H Y Yuen, P H Johnson, E J Birks, M H Yacoub, R T Smolenski
• Journal: Nucleosides, nucleotides & nucleic acids (Nucleosides Nucleotides Nucleic Acids) Vol. 24 Issue 4 Pg. 287-8 ( 2005) ISSN: 1525-7770 [Print] United States
• PMID: 16021918 (Publication Type: Journal Article)

Chemical References

• Codon, Nonsense
• Adenosine Monophosphate
• AMP Deaminase
• Adenine
• Adenosine

Topics

• AMP Deaminase (genetics)
• Adenine (metabolism)
• Adenosine (chemistry, metabolism)
• Adenosine Monophosphate (metabolism)
• Biopsy
• Chromatography, High Pressure Liquid
• Codon, Nonsense
• Genotype
• Heterozygote
• Humans
• Mutation
• Myocardium (metabolism)
• Polymorphism, Restriction Fragment Length
• Polymorphism, Single-Stranded Conformational