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 language | English |
|---|---|
| Pages (from-to) | 287-288 |
| Number of pages | 2 |
| Journal | Nucleosides, Nucleotides and Nucleic Acids |
| Volume | 24 |
| Issue number | 4 |
| DOIs | |
| State | Published - 2005 |
UN SDGs
This output contributes to the following UN Sustainable Development Goals (SDGs)
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SDG 3 Good Health and Well-being
Keywords
- AMP-deaminase
- Adenosine
- C34T Mutation
- Human Heart
ASJC Scopus subject areas
- Biochemistry
- Molecular Medicine
- Genetics
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