Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota - Twin Cities, Minneapolis, MN, USA.
Department of Electrical and Computer Engineering, University of Minnesota - Twin Cities, Minneapolis, MN, USA.
J Biol Chem. 2023 Feb;299(2):102847. doi: 10.1016/j.jbc.2022.102847. Epub 2022 Dec 29.
Duchenne muscular dystrophy is a lethal muscle wasting disease caused by the absence of the protein dystrophin. Utrophin is a dystrophin homologue currently under investigation as a protein replacement therapy for Duchenne muscular dystrophy. Dystrophin is hypothesized to function as a molecular shock absorber that mechanically stabilizes the sarcolemma. While utrophin is homologous with dystrophin from a molecular and biochemical perspective, we have recently shown that full-length utrophin expressed in eukaryotic cells is stiffer than what has been reported for dystrophin fragments expressed in bacteria. In this study, we show that differences in expression system impact the mechanical stiffness of a model utrophin fragment encoding the N terminus through spectrin repeat 3 (UtrN-R3). We also demonstrate that UtrN-R3 expressed in eukaryotic cells was phosphorylated while bacterial UtrN-R3 was not detectably phosphorylated. Using atomic force microscopy, we show that phosphorylated UtrN-R3 exhibited significantly higher unfolding forces compared to unphosphorylated UtrN-R3 without altering its actin-binding activity. Consistent with the effect of phosphorylation on mechanical stiffness, mutating the phosphorylated serine residues on insect eukaryotic protein to alanine decreased its stiffness to levels not different from unphosphorylated bacterial protein. Taken together, our data suggest that the mechanical properties of utrophin may be tuned by phosphorylation, with the potential to improve its efficacy as a protein replacement therapy for dystrophinopathies.
杜氏肌营养不良症是一种致命的肌肉消耗性疾病,由肌营养不良蛋白的缺失引起。utrophin 是肌营养不良蛋白的同源物,目前正在作为杜氏肌营养不良症的蛋白替代疗法进行研究。肌营养不良蛋白被假设为一种分子减震器,可机械稳定肌膜。虽然 utrophin 在分子和生化方面与肌营养不良蛋白具有同源性,但我们最近表明,真核细胞中表达的全长 utrophin 比在细菌中表达的肌营养不良蛋白片段报告的刚性更强。在这项研究中,我们表明表达系统的差异会影响通过 spectrin repeat 3 (UtrN-R3) 编码的模型 utrophin 片段的机械刚度。我们还证明了在真核细胞中表达的 UtrN-R3 被磷酸化,而细菌 UtrN-R3 则未检测到磷酸化。使用原子力显微镜,我们表明磷酸化的 UtrN-R3 表现出明显更高的展开力,与未磷酸化的 UtrN-R3 相比,其肌动蛋白结合活性没有改变。与磷酸化对机械刚度的影响一致,将昆虫真核蛋白上的磷酸化丝氨酸残基突变为丙氨酸会降低其刚度,使其与未磷酸化的细菌蛋白没有差异。总之,我们的数据表明 utrophin 的机械性能可能通过磷酸化进行调节,这有可能提高其作为肌营养不良蛋白病蛋白替代疗法的疗效。