scholarly journals Review of therapeutic options for spinal muscular atrophy

2021 ◽  
Vol 52 (2) ◽  
pp. 151-159
Author(s):  
Arun Singh ◽  
Monica Jain ◽  
Rupa Kapadia ◽  
Kumar Mahawar-Dhirendra ◽  
Shivankan Kakkar ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Autosomal Recessive ◽  
Muscular Atrophy ◽  
Age Groups ◽  
Respiratory Muscles ◽  
Survival Motor Neuron ◽  
Medical Problems ◽  
The Us ◽  
Neuron Damage

Spinal Muscular Atrophy (SMA) is uncommon genetic (autosomal recessive) disease that deteriorates neuromuscular function of the affected person's body by causing lower motor neuron damage, progress in muscle atrophy and in advanced cases leads to paralysis of muscles. Mainly skeletal and respiratory muscles are involved. SMA is present due to lack of SMA proteins, which are encoded by survival motor neuron-1 (SMN-1) genes. In mutation of SMN-1 genes, deficiency of SMN proteins occurs. SMA affects all age groups, but mainly and most severely children younger than 6 months of age. At present, risdiplam is a treatment option and the drug has been approved by the US Food Drug and Administration on 7 August 2020. The availability of the drug has led to increased financial, ethical and medical problems. SMA affected populations are regularly challenged to these issues.

scholarly journals New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges

2020 ◽  
Vol 9 (7) ◽  
pp. 2222 ◽  
Author(s):  
Sonia Messina ◽  
Maria Sframeli
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Muscular Atrophy ◽  
Respiratory Muscles ◽  
Gene Replacement ◽  
Survival Motor Neuron ◽  
Significant Disability ◽  
New Challenges ◽  
Smn Protein ◽  
New Treatments

Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases with progressive weakness of skeletal and respiratory muscles, leading to significant disability. The disorder is caused by mutations in the survival motor neuron 1 (SMN1) gene and a consequent decrease in the SMN protein leading to lower motor neuron degeneration. Recently, Food and Drug Administration (FDA) and European Medical Agency (EMA) approved the antisense oligonucleotide nusinersen, the first SMA disease-modifying treatment and gene replacement therapy by onasemnogene abeparvovec. Encouraging results from phase II and III clinical trials have raised hope that other therapeutic options will enter soon in clinical practice. However, the availability of effective approaches has raised up ethical, medical and financial issues that are routinely faced by the SMA community. This review covers the available data and the new challenges of SMA therapeutic strategies.

scholarly journals Revisiting the role of mitochondria in spinal muscular atrophy

2021 ◽  
Author(s):  
Rachel James ◽  
Helena Chaytow ◽  
Leire M. Ledahawsky ◽  
Thomas H. Gillingwater
Keyword(s):  
Nervous System ◽  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Neurodegenerative Disorders ◽  
Autosomal Recessive ◽  
Muscular Atrophy ◽  
Survival Motor Neuron ◽  
Clinical Severity ◽  
Motor Neuron Diseases

AbstractSpinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease of variable clinical severity that is caused by mutations in the survival motor neuron 1 (SMN1) gene. Despite its name, SMN is a ubiquitous protein that functions within and outside the nervous system and has multiple cellular roles in transcription, translation, and proteostatic mechanisms. Encouragingly, several SMN-directed therapies have recently reached the clinic, albeit this has highlighted the increasing need to develop combinatorial therapies for SMA to achieve full clinical efficacy. As a subcellular site of dysfunction in SMA, mitochondria represents a relevant target for a combinatorial therapy. Accordingly, we will discuss our current understanding of mitochondrial dysfunction in SMA, highlighting mitochondrial-based pathways that offer further mechanistic insights into the involvement of mitochondria in SMA. This may ultimately facilitate translational development of targeted mitochondrial therapies for SMA. Due to clinical and mechanistic overlaps, such strategies may also benefit other motor neuron diseases and related neurodegenerative disorders.

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy

1995 ◽  
Vol 4 (4) ◽  
pp. 631-634 ◽  
Author(s):  
N.R. Rodrigues ◽  
N. Owen ◽  
K. Talbot ◽  
J. Ignatius ◽  
V. Dubowitz ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Autosomal Recessive ◽  
Muscular Atrophy ◽  
Survival Motor Neuron ◽  
Survival Motor Neuron Gene

scholarly journals Salbutamol inhibits ubiquitin-mediated survival motor neuron protein degradation in spinal muscular atrophy cells

2015 ◽  
Vol 4 ◽  
pp. 351-356 ◽  
Author(s):  
Nur Imma Fatimah Harahap ◽  
Dian Kesumapramudya Nurputra ◽  
Mawaddah Ar Rochmah ◽  
Ai Shima ◽  
Naoya Morisada ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Protein Degradation ◽  
Muscular Atrophy ◽  
Survival Motor Neuron ◽  
Survival Motor Neuron Protein ◽  
Motor Neuron Protein
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