来自一名10岁男性的心肌AMP脱氨酶，该男性为AMPD1 C34T突变的杂合子。

Cardiac muscle AMP-deaminase from a 10-year-old male heterozygous for the AMPD1 C34T mutation.

作者信息

Rybakowska I, Bakuła S, Klimek J, Milczarek R, Smolenski R T, Kaletha K

机构信息

Department of Clinical Biochemistry and Physiology, Medical University of Gdansk, Gdansk, Poland.

出版信息

Nucleosides Nucleotides Nucleic Acids. 2010 Jun;29(4-6):453-6. doi: 10.1080/15257771003741380.

DOI:10.1080/15257771003741380

PMID:20544536

Abstract

A C34T mutation in the AMPD1 gene is proposed to cause local or systemic augmentations in blood adenosine level and improvement of prognoses in heart diseases like congestive heart failure or heart ischemic disease. This study examines some physico-chemical properties of AMP-deaminase isolated from cardiac muscle of a 10-year-old boy heterozygote for this mutation.

摘要

据推测，AMPD1基因中的C34T突变会导致血液中腺苷水平局部或全身升高，并改善充血性心力衰竭或心脏缺血性疾病等心脏病的预后。本研究检测了一名携带该突变的10岁男孩杂合子心肌中分离出的AMP脱氨酶的一些物理化学性质。