Department of Oral and Maxillofacial Surgery, Saitama Medical University, Saitama, Japan.
Division of Analytical Science, Biomedical Research Center Hidaka Branch, Saitama Medical University, Saitama, Japan.
In Vivo. 2022 Mar-Apr;36(2):563-569. doi: 10.21873/invivo.12738.
BACKGROUND/AIM: Masticatory muscle tendon-aponeurosis hyperplasia (MMTAH) is a disease associated with a mouth opening limitation. Here, we conducted a bioinformatics analysis to examine gene expression patterns in patients with MMTAH in comparison to those with facial deformity (FD).
Seven MMTAH patients and three FD patients were recruited. We conducted RNA sequencing analysis, quantitative reverse transcription polymerase chain reaction and immunoblot analysis.
Of the identified 19,767 mapped read tags that showed clear differential expression, 2,471 genes were significantly up-regulated and 2,849 genes were significantly down-regulated in patients with MMTAH compared to those in patients with FD. Among the up-regulated genes, ten genes were significantly increased. The distribution of up-regulated and down-regulated genes at different ages tended to be similar. Moreover, the protein levels of Ankyrin Repeat Domain 2, Troponin T1 and myosin heavy chain 7, which are associated with slow twitch fibers and mechanical loading, were strongly expressed in patients with MMTAH compared to those in patients with FD.
The gene expression pattern in MMTAH patients was similar regardless of age. As the transition of fast-to-slow twitch in the skeletal muscle is induced by mechanical loading, and up-regulation of slow twitch molecules was observed in MMTAH patients, mechanical loading is suggested to be implicated in MMTAH.
背景/目的：咀嚼肌肌腱-腱膜过度增生（MMTAH）是一种与开口受限相关的疾病。在此，我们进行了生物信息学分析，以检查 MMTAH 患者与面部畸形（FD）患者的基因表达模式。
招募了 7 名 MMTAH 患者和 3 名 FD 患者。我们进行了 RNA 测序分析、定量逆转录聚合酶链反应和免疫印迹分析。
在显示明显差异表达的 19767 个映射读标签中，与 FD 患者相比，MMTAH 患者中有 2471 个基因显著上调，2849 个基因显著下调。在上调基因中，有 10 个基因显著增加。不同年龄组上调和下调基因的分布趋势相似。此外，与快速抽搐纤维和机械负荷相关的 Ankyrin Repeat Domain 2、肌钙蛋白 T1 和肌球蛋白重链 7 的蛋白水平在 MMTAH 患者中明显高于 FD 患者。
无论年龄大小，MMTAH 患者的基因表达模式相似。由于机械负荷诱导骨骼肌中快抽搐向慢抽搐的转变，并且在 MMTAH 患者中观察到慢抽搐分子的上调，因此推测机械负荷与 MMTAH 有关。
