Lashgari Naser-Aldin, Roudsari Nazanin Momeni, Shayan Maryam, Eshraghi Sadaf, Momtaz Saeideh, Jamialahmadi Tannaz, Abdolghaffari Amir Hossein, Sahebkar Amirhossein
Department of Toxicology & Pharmacology, Faculty of Pharmacy, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran.
GI Pharmacology Interest Group (GPIG), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
Curr Med Chem. 2024;31(12):1512-1522. doi: 10.2174/0929867330666230213114909.
Spinal muscular atrophy (SMA) is a hereditary disorder affecting neurons and muscles, resulting in muscle weakness and atrophy. Most SMA cases are diagnosed during infancy or early childhood, the most common inherited cause of infant mortality without treatment. Still, SMA might appear at older ages with milder symptoms. SMA patients demonstrate progressive muscle waste, movement problems, tremors, dysphagia, bone and joint deformations, and breathing difficulties. The mammalian target of rapamycin (mTOR), the mechanistic target of rapamycin, is a member of the phosphatidylinositol 3-kinase-related kinase family of protein kinases encoded by the mTOR gene in humans. The mTOR phosphorylation, deregulation, and autophagy have shown dissimilarity amongst SMA cell types. Therefore, exploring the underlying molecular process in SMA therapy could provide novel insights and pave the way for finding new treatment options. This paper provides new insight into the possible modulatory effect of mTOR/ autophagy in SMA management.
脊髓性肌萎缩症（SMA）是一种影响神经元和肌肉的遗传性疾病，会导致肌肉无力和萎缩。大多数SMA病例在婴儿期或幼儿期被诊断出来，是未经治疗的婴儿死亡的最常见遗传原因。不过，SMA也可能在年龄较大时出现，症状较轻。SMA患者表现出进行性肌肉萎缩、运动问题、震颤、吞咽困难、骨骼和关节畸形以及呼吸困难。雷帕霉素的哺乳动物靶点（mTOR），即雷帕霉素作用靶点，是人类mTOR基因编码的磷脂酰肌醇3激酶相关蛋白激酶家族的成员。mTOR磷酸化、失调和自噬在SMA细胞类型中表现出差异。因此，探索SMA治疗的潜在分子过程可以提供新的见解，并为寻找新的治疗选择铺平道路。本文为mTOR/自噬在SMA管理中的可能调节作用提供了新的见解。
