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ISSN 2063-5346
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INDIAN PLANTS AS A POTENTIAL TOOL FOR PREVENTING MULTIFUNCTIONAL SPINAL MUSCULAR ATROPHY

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Muskan Srivastava1 , Ashwani Kumar
» doi: 10.48047/ecb/2023.12.si5a.0352

Abstract

Spinal muscular atrophy is a hereditary degenerative condition of lower motor neurons characterized by increasing muscle weakening and atrophy. It results from lower amounts of the "survival of motor neuron" (SMN) protein. Because of mutations in the SMN1 gene on chromosome 5q13, on each copy of chromosome 5, the SMN gene, known as SMN1 and SMN2, forms an inverted duplication. SMN2 and SMN1 differ from each other by five nucleotide alterations that do not alter the amino acids. Exon 7 of SMN2 is excluded from most transcripts by a crucial single nucleotide alteration in an exonic splice enhancer. Because of this, the (SMN2) gene's duplication creates a less functional SMN protein. The majority of people who have spinal muscular atrophy have homozygous deletions of the SMN1 gene, but they still have at least one copy of the SMN2 gene. The SMN2 gene copy number, which varies naturally throughout the population, the concentration of SMN protein, and the severity of the illness are roughly correlated. Investigations on the function of the SMN protein are still ongoing. There also seem to be genes that modify, which may play additional functions in motor neuron function. In addition to lower motor neurons, problems at the neuromuscular junction have been seen in animal models of spinal muscular atrophy. Animal models and aberrant muscle growth in patients who are most severely affected to increase the expression of SMN2 or have an impact on other modifying genes, pharmacological substances are being developed as potential therapeutics. In addition to employing stem cells to replace deteriorated motor neurons, researchers are attempting to accomplish this goal through gene therapy, antisense oligonucleotides, and other methods. Recommendations in a consensus statement for the multidisciplinary supportive care of people with spinal muscular atrophy have helped many patients survive longer and live better lives during the past ten years. In this review we focus on some treatment measure for SMA and suggested some natural extract which may be potential inhibitors for SMA illness.

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