Association of improved cardiac function in donors with C34T mutation of the AMP deaminase 1 gene.
Possession of the C34T mutation in AMP deaminase (AMPD1) gene has been shown to be associated with attenuation of the progression of heart failure and improved survival in ischemic heart disease. In this study, we examined the frequency of the mutation in the heart with good and poor cardiac function and in healthy controls. We found that there was no difference in the frequency of the mutation between the patients with heart failure and healthy controls. However, the frequency of the mutation in the healthy donor hearts was much higher when compared to healthy controls or donors with failing hearts.
Yuen
A H Y
AH
Heart Science Centre, Imperial College at Harefield Hospital, Harefield, Middlesex, UK. ada.yuen@imperial.ac.uk
Yacoub
M H
MH
Birks
E J
EJ
Kalsi
K K
KK
Johnson
P H
PH
Smolenski
R T
RT
D000659:AMP Deaminase / Q000235:genetics*; D000483:Alleles; D016022:Case-Control Studies; D004452:Echocardiography; D005838:Genotype; D006084:Graft Rejection; D006321:Heart / Q000502:physiology*; D006333:Heart Failure / Q000235:genetics*; D016027:Heart Transplantation; D006439:Hemodynamics; D006801:Humans; D007511:Ischemia / Q000473:pathology; D009154:Mutation; D009206:Myocardium / Q000473:pathology*; D018807:Polymorphism, Single-Stranded Conformational; D014019:Tissue Donors
D000659:AMP Deaminase