title: C34T AMP deaminase 1 gene mutation protects cardiac function in donors.
abstract: Dysfunction of the donor heart is an important clinical problem that could be affected by genetic factors. We tested the hypothesis that possession of the C34T nonsense mutation in AMPD1 gene, which is known to improve survival in chronic heart failure, protects against cardiac dysfunction in donors. Genetic analysis for C34T mutation was performed by single-stranded conformational polymorphism (SSCP) in 22 donor hearts used for transplantation, 10 unused donor hearts with acute heart failure (HF), 37 patients with chronic HF, and 207 healthy controls. We found a significantly higher frequency of the mutation among donors with healthy hearts used for transplantation (31.8%) as compared to control population (13.5%, P < 0.001) and a lower frequency in dysfunctional donor hearts (5.0% P = 0.025); the frequency of the C34T mutation in patients with chronic heart failure (14.8%) was not different from that of a control population. The presence of the C34T mutation in AMPD1 gene appears to be protective against acute heart failure in cardiac donors.
authors.affiliation: Heart Science Centre, Imperial College at Harefield Hospital, Harefield, Middx UB9 6JH, UK. m.yacoub@ic.ac.uk
authors.forename: Magdi H
authors.initials: MH
authors.lastname: Yacoub
authors.forename: Ada H Y
authors.initials: AH
authors.lastname: Yuen
authors.forename: Kameljit K
authors.initials: KK
authors.lastname: Kalsi
authors.forename: Emma J
authors.initials: EJ
authors.lastname: Birks
authors.forename: Anne
authors.initials: A
authors.lastname: Taegtmeyer
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Barton
authors.forename: Philip H
authors.initials: PH
authors.lastname: Johnson
authors.forename: Ken
authors.initials: K
authors.lastname: Suzuki
authors.forename: Ryszard T
authors.initials: RT
authors.lastname: Smolenski
mesh_terms: D000659:AMP Deaminase / Q000235:genetics*; D002303:Cardiac Output, Low / Q000235:genetics / Q000503:physiopathology; D002908:Chronic Disease; D003596:Cytosine; D006321:Heart / Q000503:physiopathology*; D006801:Humans; D009154:Mutation; D013941:Thymine; D014019:Tissue Donors
chemical_list: D003596:Cytosine; D000659:AMP Deaminase; D013941:Thymine