Department of Biology, Molecular Biology Institute, Heart Institute, San Diego State University, San Diego, California, USA.
Department of Chemistry and Biochemistry, San Diego State University, San Diego, California, USA.
Aging Cell. 2024 Jun;23(6):e14134. doi: 10.1111/acel.14134. Epub 2024 Mar 20.
The molecular motor myosin is post-translationally modified in its globular head, its S2 hinge, and its thick filament domain during human skeletal muscle aging. To determine the importance of such modifications, we performed an integrative analysis of transgenic Drosophila melanogaster expressing myosin containing post-translational modification mimic mutations. We determined effects on muscle function, myofibril structure, and myosin biochemistry. Modifications in the homozygous state decreased jump muscle function by a third at 3 weeks of age and reduced indirect flight muscle function to negligible levels in young flies, with severe effects on flight muscle myofibril assembly and/or maintenance. Expression of mimic mutations in the heterozygous state or in a wild-type background yielded significant, but less severe, age-dependent effects upon flight muscle structure and function. Modification of the residue in the globular head disabled ATPase activity and in vitro actin filament motility, whereas the S2 hinge mutation reduced actin-activated ATPase activity by 30%. The rod modification diminished filament formation in vitro. The latter mutation also reduced proteostasis, as demonstrated by enhanced accumulation of polyubiquitinated proteins. Overall, we find that mutation of amino acids at sites that are chemically modified during human skeletal muscle aging can disrupt myosin ATPase, myosin filament formation, and/or proteostasis, providing a mechanistic basis for the observed muscle defects. We conclude that age-specific post-translational modifications present in human skeletal muscle are likely to act in a dominant fashion to affect muscle structure and function and may therefore be implicated in degeneration and dysfunction associated with sarcopenia.
在人类骨骼肌衰老过程中,分子马达肌球蛋白在其球状头部、S2 铰链和粗丝结构域中发生翻译后修饰。为了确定这些修饰的重要性,我们对表达肌球蛋白的转基因果蝇进行了综合分析,这些肌球蛋白含有翻译后修饰模拟突变。我们确定了这些突变对肌肉功能、肌原纤维结构和肌球蛋白生物化学的影响。在纯合状态下,修饰会使跳跃肌肉功能在 3 周龄时降低三分之一,并使年轻果蝇的间接飞行肌肉功能降低到几乎为零,对飞行肌肉肌原纤维组装和/或维持有严重影响。在杂合状态或野生型背景下表达模拟突变会对飞行肌肉结构和功能产生显著但不那么严重的年龄依赖性影响。球状头部残基的修饰使 ATP 酶活性和体外肌动蛋白丝运动能力丧失,而 S2 铰链突变使肌球蛋白的肌动蛋白激活 ATP 酶活性降低 30%。棒状结构域的修饰减少了体外丝状结构的形成。后者突变还降低了蛋白质稳态,这表现为多聚泛素化蛋白的积累增加。总的来说,我们发现,在人类骨骼肌衰老过程中发生化学修饰的氨基酸突变会破坏肌球蛋白的 ATP 酶、肌球蛋白丝形成和/或蛋白质稳态,为观察到的肌肉缺陷提供了机制基础。我们得出结论,在人类骨骼肌中存在的特定于年龄的翻译后修饰可能以显性方式影响肌肉结构和功能,因此可能与与肌肉减少症相关的退行性和功能障碍有关。