Title:Spinal Muscular Atrophy Treatment: The MTOR Regulatory
Intervention
Volume: 31
Issue: 12
Author(s): Naser-Aldin Lashgari, Nazanin Momeni Roudsari, Maryam Shayan, Sadaf Eshraghi, Saeideh Momtaz*, Tannaz Jamialahmadi, Amir Hossein Abdolghaffari*Amirhossein Sahebkar*
Affiliation:
- GI Pharmacology Interest Group (GPIG), Universal Scientific Education and Research
Network (USERN), Tehran, Iran
- Medicinal Plants Research Center, Institute of Medicinal Plants, ACECR,
Karaj, Iran
- Toxicology and Diseases Group (TDG), Pharmaceutical Sciences Research Center (PSRC),
The Institute of Pharmaceutical Sciences (TIPS), and Faculty of Pharmacy, Tehran University of Medical
Sciences, Tehran, Iran
- 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
- Applied Biomedical Research Center, Mashhad University of Medical Sciences, Mashhad,
Iran
- Biotechnology Research Center, Pharmaceutical Technology Institute, Mashhad University of Medical
Sciences, Mashhad, Iran
- School of Medicine, The University of Western Australia, Perth, Australia
- Department of Biotechnology, School of Pharmacy, Mashhad University of Medical Sciences, Mashhad,
Iran
Keywords:
Spinal muscular atrophy, mammalian target of rapamycin, autophagy, SMA, mTOR, survival motor neuron.
Abstract: 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.
