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Review Article

Spinal Muscular Atrophy Treatment: The MTOR Regulatory Intervention

[ Vol. 31 , Issue. 12 ]


Naser-Aldin Lashgari, Nazanin Momeni Roudsari, Maryam Shayan, Sadaf Eshraghi, Saeideh Momtaz*, Tannaz Jamialahmadi, Amir Hossein Abdolghaffari* and Amirhossein Sahebkar*   Pages 1512 - 1522 ( 11 )


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.


Spinal muscular atrophy, mammalian target of rapamycin, autophagy, SMA, mTOR, survival motor neuron.


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