Aswan Heart Center, Aswan 200, Egypt.
Department of Zoology, Faculty of Science, Cairo University, Giza 12613, Egypt.
Int J Mol Sci. 2020 Sep 29;21(19):7176. doi: 10.3390/ijms21197176.
Hypertrophic cardiomyopathy (HCM) is the most common inherited heart muscle disease, with a prevalence of at least 1 in 500 in the general population. The disease is pleiotropic and is characterized by an increased stiffness of the myocardium, partly due to changes in the extracellular matrix (ECM), with elevated levels of interstitial fibrosis. Myocardial fibrosis is linked to impaired diastolic function and possibly phenotypic heterogeneity of HCM. The ECM consists of a very large number of proteins, which actively interact with each other as well as with myocardial cells. The role of other multiple components of the ECM in HCM has not been defined. Fibulin-2 is a glycoprotein component of the ECM, which plays an important role during embryogenesis of the heart; however, its role in adult myocardium has not been adequately studied. We here describe, for the first time, abnormal expression of fibulin-2 in the myocardium in patients with HCM as compared to normal controls. This abnormal expression was localized in the cytoplasm of myocardial cells and in the interstitial fibroblasts. In addition, fibulin-2 levels, measured by ELISA, were significantly elevated in the serum of patients with HCM as compared to normal controls.
肥厚型心肌病（HCM）是最常见的遗传性心肌疾病，在普通人群中的患病率至少为每 500 人中有 1 人。该疾病具有多效性，其特征是心肌僵硬度增加，部分原因是细胞外基质（ECM）的变化，间质纤维化程度升高。心肌纤维化与舒张功能障碍有关，并且可能与 HCM 的表型异质性有关。ECM 由大量蛋白质组成，这些蛋白质彼此之间以及与心肌细胞之间都有积极的相互作用。ECM 的其他多个成分在 HCM 中的作用尚未确定。纤连蛋白-2是 ECM 的糖蛋白成分，在心脏胚胎发生过程中发挥着重要作用；然而，其在成年心肌中的作用尚未得到充分研究。我们首次描述了 HCM 患者心肌中纤连蛋白-2的异常表达与正常对照组相比。这种异常表达定位于心肌细胞的细胞质和间质成纤维细胞中。此外，通过 ELISA 测量的纤连蛋白-2水平在 HCM 患者的血清中明显高于正常对照组。
