The Neurologist: Clinical & Therapeutics Journal
Open Access

Our Group organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations
700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)
  • Review Article   
  • Neurol Clin Therapeut J 6: 111,
  • DOI: 10.4172/nctj.1000110

Genetics of Spinal Muscular Atrophy and Splicing of Smn Gene

Ashraf A1, Nazir S1, Murtaza M2, Imtiaz MU1, Sohail S3*, Nisar M1, Abbas S4, Farooq M5, Sohail F6 and Rana H1
1MBBS, Allama Iqbal Medical College, Pakistan
2MBBS, Rahim yar Khan Medical College, Pakistan
3MBBS, Rawalpindi Medical University, Pakistan
4Department of Microbiology, University of Central Punjab, Pakistan
5MBBS, King Edward Medical University, Pakistan
6Department of Microbiology, Government University Lahore, Pakistan
*Corresponding Author : Sohail S, Deaprtment of Microbiology, University of central Punjab, Pakistan, Email: shehreen.baig19@gmail.com

Received Date: Jan 01, 2022 / Accepted Date: Jan 18, 2022 / Published Date: Jan 31, 2022

Abstract

Spinal muscular atrophy is characterized by loss of motor neurons and muscle atrophy, largely in childhood. It is a devastating neuromuscular disorder. In humans, nearly two identical inverted SMN genes (SMN1, SMN2) are present on chromosome 5q13. Homologous deletion of SMN1 results in SMA.SMA is initiated by low levels of the survival motor neuron protein (SMN) because of inactivating mutations in the encoding gene SMN1. Another functional protein for survival is produced by second duplicate gene SMN2.It produces a shortened, unstable SMN messenger RNA. From alternative splicing it produces a small length fully functional SMN messenger RNA. For SMA clinical severity, SMN2 gene copy number is a good prognostic biomarker. Many therapeutical strategies for spinal muscular atrophy are in clinical trials. Recently, Antisense oligonucleotide (ASO) therapy has been licensed. Though, several factors recommend that complementary strategies may be desirable for the long-term maintenance of neuromuscular disorder. During the establishment of structural connections of neuromuscular system, SMN protein is required in highest amount. Besides, people receiving SMN-based treatments may be vulnerable to delayed symptoms if rescue of the neuromuscular system is incomplete. Hence, for the treatment of CNS and periphery, a comprehensive whole-lifespan approach to SMA therapy is required. This therapy includes both SMN-dependent and SMN-independent strategies for the enhancement of SMN expressions many current and planned clinical trials are designed.

Keywords: Spinal muscular atrophy,SMN genes,Homologous deletion,clinical trials.

Citation: Sohail S, Asif F, Asif MA, Ashraf A, Nisar M, et al. (2022) Genetics of Spinal Muscular Atrophy and Splicing of Smn Gene. Neurol Clin Therapeut J 6: 110. Doi: 10.4172/nctj.1000110

Copyright: © 2022 Sohail S, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Top