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AMPD1 C34T mutation selectively affects AMP-deaminase activity in the human heart
K K Kalsi1, A H Y Yuen, P H Johnson
1Heart Science Centre, Imperial College at Harefield Hospital, Harefield, Middlesex, UK. K.Kalsi@imperial.ac.uk
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.
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