AMPD1基因C34T突变选择性地影响人类心脏中的AMP脱氨酶活性。

AMPD1 C34T mutation selectively affects AMP-deaminase activity in the human heart.

作者信息

Kalsi K K, Yuen A H Y, Johnson P H, Birks E J, Yacoub M H, Smolenski R T

机构信息

Heart Science Centre, Imperial College at Harefield Hospital, Harefield, Middlesex, UK.

出版信息

Nucleosides Nucleotides Nucleic Acids. 2005;24(4):287-8. doi: 10.1081/NCN-59721.

DOI:10.1081/NCN-59721

PMID:16021918

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.

摘要

AMPD 1 C34T基因中的无义突变与心力衰竭患者生存率的提高有关，可能是通过促进腺苷的形成。已知这种突变会降低骨骼肌中AMP脱氨酶的活性。我们发现，AMPD1突变会降低心脏中AMP脱氨酶的活性，而不会改变腺嘌呤核苷酸代谢中任何其他酶的活性。因此，这种突变的保护机制可能是由局部心脏代谢变化诱导的。