Models are practical tools with which to establish the basic aspects of a diseases. They allow systematic research into the significance of mutations, of cellular and molecular pathomechanisms, of therapeutic options and of functions of diseases associated proteins. Thus, disease models are an integral part of the study of enigmatic proteins such as immunoglobulin mu-binding protein 2 (IGHMBP2). IGHMBP2 has been well defined as a helicase, however there is little known about its role in cellular processes. Notably, it is unclear why changes in such an abundant protein lead to specific neuronal disorders including spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth type 2S (CMT2S). SMARD1 is caused by a loss of motor neurons in the spinal cord that results in muscle atrophy and is accompanied by rapid respiratory failure. In contrast, CMT2S manifests as a severe neuropathy, but typically without critical breathing problems. Here, we present the clinical manifestation of IGHMBP2 mutations, function of protein and models that may be used for the study of IGHMBP2-associated disorders. We highlight the strengths and weaknesses of specific models and discuss the orthologs of IGHMBP2 that are found in different systems with regard to their similarity to human IGHMBP2.

模型是确定疾病基本方面的实用工具。它们允许系统研究突变的重要性、细胞和分子病理机制、治疗选择和疾病相关蛋白的功能。因此，疾病模型是研究神秘蛋白质（例如免疫球蛋白 mu 结合蛋白 2 (IGHMBP2)）的一个组成部分。IGHMBP2 已被很好地定义为一种解旋酶，但对其在细胞过程中的作用知之甚少。值得注意的是，尚不清楚为什么如此丰富的蛋白质的变化会导致特定的神经元疾病，包括伴有呼吸窘迫 1 型 (SMARD1) 和 Charcot-Marie-Tooth 2S 型 (CMT2S) 的脊髓性肌萎缩症。SMARD1 是由脊髓中运动神经元的丧失引起的，导致肌肉萎缩并伴有快速呼吸衰竭。相比之下，CMT2S 表现为严重的神经病变，但通常没有严重的呼吸问题。在这里，我们介绍一下临床表现IGHMBP2突变、蛋白质功能和可用于研究IGHMBP2相关疾病的模型。我们强调了特定模型的优点和缺点，并讨论了在不同系统中发现的 IGHMBP2 直系同源物与人类 IGHMBP2 的相似性。