Super Oxide Dismutase 1, the first discovered ALS gene, has opened up new vistas in our understanding of Amyotrophic Lateral Sclerosis (ALS). This pioneer gene, decoded over two decades ago, continues to shine a light on the mysterious pathways of this neurodegenerative disorder.
Unveiling the Super Oxide Dismutase 1 Gene
The super oxide dismutase 1 (SOD1) gene encodes an enzyme that aids in the breakdown of superoxide radicals in the body. This action protects the cells from damage due to these harmful free radicals. Scientists first posited the connection between mutations in SOD1 and ALS in 1993[^1^].
Approximately 20% of familial ALS cases exhibit mutations in the SOD1 gene[^2^]. Familial ALS is a type of ALS which runs in families and constitutes a small fraction of the total ALS cases, approximately 5-10%. The mutation can result in the abnormal functioning or stray distribution of SOD1 inside the cell. This in turn leads to cell death and triggers the onset of ALS.
The Pivotal Role of Super Oxide Dismutase 1 in ALS Research
It’s a testament to the crucial role of the first discovered ALS gene that SOD1 has influenced ALS research in multitudinous ways.
1. Modeling Disease: The SOD1 mutation provided scientists with the groundwork to develop transgenic mice models, exact replicas of human ALS. These models accelerated the study of pathogenesis and evaluation of potential therapies[^3^].
2. Pathogenesis Insight: From misfolding of proteins to generation of free radicals, the SOD1 gene has unveiled various possible pathways through which ALS progresses.
3. Target for Therapies: SOD1 has influenced the creation of potential therapies, like SOD1 Silencing, which uses RNA interference to prevent the production of SOD1 protein in cells.
Beyond Super Oxide Dismutase 1
The discovery of SOD1 cast a wider net, leaving no stone unturned in the quest of the genetic causes for ALS. To date, more than 30 other genes have been linked to both familial and sporadic forms of ALS[^4^]. These genes include TARDBP, FUS, and C9orf72, further enhancing our understanding of the condition.
Wrapping Up: The First Discovered ALS Gene Holds the Key
In conclusion, the first discovered ALS gene, Super Oxide Dismutase 1, still holds the key to many unanswered questions. It continues to guide medical researchers toward crucial insights and breakthroughs in understanding ALS. The uncharted territories of the SOD1 gene still demand exploration to fully unveil the gene’s complex characteristics and their intricate relation to ALS.
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References
– Identification of two novel mutations in patients with amyotrophic lateral sclerosis
– Emerging mechanisms of molecular pathology in ALS
– The role of SOD1 in amyotrophic lateral sclerosis
– Amyotrophic lateral sclerosis