Amyotrophic Lateral Sclerosis (ALS): Familial ALS, Genetic Mutation, and Possible Gene Therapy Cure
DOI:
https://doi.org/10.47611/jsrhs.v12i4.5668Keywords:
ALS, fALS, Mutation, Gene (RNA/DNA), Protein, NeuronAbstract
In our world today, many neurodegenerative diseases are being studied and thoroughly evaluated. Scientists attempt to understand these diseases to a greater extent every day, researching possible causes and cures. In particular, a disease called Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease that still elicits uncertainty, with many underlying causes and no current cure. Those with ALS experience motor neuron degeneration, the root source of ALS. This degeneration of motor neurons leads to paralysis, or the inability to move due to a loss of muscle function by impaired neural messaging. In a specific branch of ALS, familial ALS (fALS), motor neuron degeneration is caused by specific genetic mutations in an individual that were passed on by hereditary nature. This research identifies four genes that hold the genetic mutations responsible for fALS: SOD1, TARDBP, FUS, and C9orf72. Of these many genes, this research identified their corresponding mutational contributions to motor neuron degeneration like oxidative stress, protein aggregation, and other causes. Along with the analysis of the problematic genetic mutations, this study sheds light on next generation sequencing (NGS) as a way to efficiently scan for genetic mutations, as well as CRISPR-Cas9 gene therapy as a possible cure for fALS in the future of neurodegenerative study. Overall, this research aims to narrow in on fALS and demonstrates a comprehensive analysis of the specific gene mutations that take place, the significance of each in the overall progression of ALS and motor neuron degeneration, and future possibilities for next-generation sequencing and gene therapy.
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