Misiorek Julia O
Zakład Neuroonkologii Molekularnej, Instytut Chemii Bioorganicznej Polskiej Akademii Nauk w Poznaniu.
Postepy Biochem. 2023 Mar 27;69(1):42-46. doi: 10.18388/pb.2021_481. Print 2023 Mar 31.
Charcot-Marie-Tooth (CMT) is a genetic, incurable neurodegenerative disease which etiology is linked to mutations in almost hundred different genes. The disease affects peripheral nerves which control muscle work and their myelin sheath resulting in progressive muscular dystrophy. The most remarkable genes which mutations are associated with CMT phenotype, are genes encoding aminoacyl-tRNA synthases (aaRS). These proteins are enzymes which common role is to catalyze the reaction of amino acids transfer into tRNA molecules and thereby, to participate in translation of genetic code into the language of proteins. aaRS have been gaining new functions resulting from the mutations acquired in the course of evolution. These functions remain unidentified, despite unraveling the binding partners of aaRS. However, the ongoing molecular studies, which focus on mutations carried by CMT patients and model organisms, bring the researchers closer to unravel the novel functions of aaRS and their potential key role in CMT pathogenesis.
夏科-马里-图斯病（CMT）是一种遗传性、无法治愈的神经退行性疾病，其病因与近百种不同基因的突变有关。该疾病会影响控制肌肉运动的外周神经及其髓鞘，导致进行性肌肉萎缩。与CMT表型相关的最显著基因突变的基因是编码氨酰-tRNA合成酶（aaRS）的基因。这些蛋白质是酶，其共同作用是催化氨基酸转移到tRNA分子的反应，从而参与将遗传密码翻译成蛋白质语言的过程。由于在进化过程中获得的突变，aaRS获得了新的功能。尽管已经揭示了aaRS的结合伙伴，但这些功能仍未明确。然而，正在进行的分子研究聚焦于CMT患者和模式生物携带的突变，使研究人员更接近揭示aaRS的新功能及其在CMT发病机制中的潜在关键作用。
