期刊
NEUROMUSCULAR DISORDERS
卷 31, 期 12, 页码 1266-1278出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2021.08.001
关键词
IGHMBP2; SMARD1; CMT2S; Disease models
资金
- National Science Centre Poland [2020/04/X/NZ2/00377]
Disease models are crucial for studying the basic aspects and pathomechanisms of diseases, including enigmatic proteins like IGHMBP2. The role of IGHMBP2 in cellular processes remains poorly understood, with mutations potentially leading to specific neuronal disorders such as SMARD1 and CMT2S. Additional research is needed to fully elucidate the function and implications of IGHMBP2 mutations in disease progression.
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. (c) 2021 The Author(s). Published by Elsevier B.V. This is an open access article under the CC BY license ( http://creativecommons.org/licenses/by/4.0/ )
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