Heizmann Claus W
Department of Pediatrics, Division of Clinical Chemistry and Biochemistry, University of Zürich, Zürich, Switzerland.
Methods Mol Biol. 2019;1929:157-186. doi: 10.1007/978-1-4939-9030-6_11.
A multitude of Ca-sensor proteins containing the specific Ca-binding motif (helix-loop-helix, called EF-hand) are of major clinical relevance in a many human diseases. Measurements of troponin, the first intracellular Ca-sensor protein to be discovered, is nowadays the "gold standard" in the diagnosis of patients with acute coronary syndrome (ACS). Mutations have been identified in calmodulin and linked to inherited ventricular tachycardia and in patients affected by severe cardiac arrhythmias. Parvalbumin, when introduced into the diseased heart by gene therapy to increase contraction and relaxation speed, is considered to be a novel therapeutic strategy to combat heart failure. S100 proteins, the largest subgroup with the EF-hand protein family, are closely associated with cardiovascular diseases, various types of cancer, inflammation, and autoimmune pathologies. The intention of this review is to summarize the clinical importance of this protein family and their use as biomarkers and potential drug targets, which could help to improve the diagnosis of human diseases and identification of more selective therapeutic interventions.
众多含有特定钙结合基序（螺旋-环-螺旋，称为EF手）的钙传感蛋白在许多人类疾病中具有重要的临床意义。肌钙蛋白是首个被发现的细胞内钙传感蛋白，如今其检测是急性冠状动脉综合征（ACS）患者诊断的“金标准”。已在钙调蛋白中鉴定出突变，这些突变与遗传性室性心动过速以及患有严重心律失常的患者有关。通过基因疗法将小白蛋白导入患病心脏以提高收缩和舒张速度，被认为是对抗心力衰竭的一种新型治疗策略。S100蛋白是EF手蛋白家族中最大的亚组，与心血管疾病、各种类型的癌症、炎症和自身免疫性疾病密切相关。本综述的目的是总结该蛋白家族的临床重要性及其作为生物标志物和潜在药物靶点的用途，这有助于改善人类疾病的诊断并确定更具选择性的治疗干预措施。
