Department of Biochemistry and Medical Chemistry, Pomeranian Medical University, Szczecin, Poland.
Arch Med Sci. 2013 Aug 30;9(4):640-50. doi: 10.5114/aoms.2012.32619. Epub 2012 Dec 28.
CD36 plays an important role in long-chain fatty acid homeostasis in skeletal muscle and the myocardium. CD36 deficiency may lead to reduced myocardial uptake of long-chain fatty acid. Therefore, different mutations of the CD36 gene may contribute to the clinical heterogeneity of cardiac hypertrophy.
The objective of the study was to investigate whether there is an association between the sequence changes in CD36 and echocardiographic and electrocardiographic parameters in Caucasian patients with early onset coronary artery disease. The study group comprised 100 patients. Electrocardiography and echocardiography were performed in all patients. Amplicons of exons 4 to 6 including fragments of introns were studied using the denaturing high-performance liquid chromatography technique.
IVS3-6TC (rs3173798) heterozygotes had impaired left ventricle diastolic function. 573GA heterozygotes (rs5956) had higher frequency of pseudonormal left ventricular diastolic function and it was confirmed by the increase in wave A' in the tissue Doppler. 591AT genotype was associated with borderline higher posterior wall end-diastolic thickness and lower E/A ratio. These results are consistent with electrocardiography parameters which could reflect left ventricular hypertrophy (higher RV5(6) and RV5(6) + SV1(2) parameters, depressed ST segments and tendency to longer Qtc II interval) in 591AT heterozygotes.
Detected variant alleles of CD36 may be associated with features of left ventricular hypertrophy and impaired diastolic function.
CD36 在骨骼肌和心肌中的长链脂肪酸稳态中发挥重要作用。CD36 缺乏可能导致心肌对长链脂肪酸的摄取减少。因此,CD36 基因的不同突变可能导致心脏肥大的临床异质性。
本研究的目的是探讨 CD36 序列变化与早发冠心病白种人患者的超声心动图和心电图参数之间是否存在关联。研究组包括 100 名患者。所有患者均进行心电图和超声心动图检查。使用变性高效液相色谱技术研究包括内含子片段在内的外显子 4 至 6 的扩增子。
IVS3-6TC(rs3173798)杂合子的左心室舒张功能受损。573GA 杂合子(rs5956)具有更高的假性正常左心室舒张功能频率,这通过组织多普勒中波 A'的增加得到证实。591AT 基因型与后侧壁舒张末期厚度略高和 E/A 比值降低相关。这些结果与心电图参数一致,这些参数可反映左心室肥厚(更高的 RV5(6) 和 RV5(6) + SV1(2) 参数、压低的 ST 段和更长的 Qtc II 间隔的趋势)在 591AT 杂合子中。
检测到的 CD36 变异等位基因可能与左心室肥厚和舒张功能障碍的特征有关。