AMPD1 C34T mutation selectively affects AMP-deaminase activity in the human heart.
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.
Kalsi
K K
KK
Heart Science Centre, Imperial College at Harefield Hospital, Harefield, Middlesex, UK. K.Kalsi@imperial.ac.uk
Yuen
A H Y
AH
Johnson
P H
PH
Birks
E J
EJ
Yacoub
M H
MH
Smolenski
R T
RT
D000659:AMP Deaminase / Q000235:genetics*; D000225:Adenine / Q000378:metabolism; D000241:Adenosine / Q000737:chemistry / Q000378:metabolism; D000249:Adenosine Monophosphate / Q000378:metabolism; D001706:Biopsy; D002851:Chromatography, High Pressure Liquid; D018389:Codon, Nonsense; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D009206:Myocardium / Q000378:metabolism*; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational
D018389:Codon, Nonsense; D000249:Adenosine Monophosphate; D000659:AMP Deaminase; D000225:Adenine; D000241:Adenosine