SOD1 Research Papers

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Imagine a healthy man, sixty years old, recently retired, with many years left to spend with his wife, four children, ten grandchildren, and two great-grandchildren. Then one day he begins experiencing difficulty swallowing and slurred speech. After being told by his daughter that these could be symptoms of a stroke, he turns to his doctor for answers. As his swallowing and speech worsen, each diagnostic test is inconclusive. Finally, after several months of increasing frustration and decreasing health, he is diagnosed with amyotrophic lateral sclerosis, or ALS. Within two months, he is in a wheelchair with a surgically placed feeding tube. Six months after being diagnosed, he passes away in his sleep from respiratory failure. He was…show more content…
In 1993, scientists at the NINDS isolated a mutation in the gene that produces an enzyme called superoxide dismutase 1. SOD1 is known to be a powerful antioxidant that protects the body from highly reactive molecules called free radicals. These molecules can cause random damage to DNA if allowed to accumulate. Researchers are not yet sure how the SOD1 gene mutation contributes to motor neuron degeneration, but the belief is that the mutation may lead to an accumulation of free radicals which could soon be linked to the development of ALS. This mutation has only been found in hereditary cases of ALS. Some studies have also looked at excess glutamate as a potential source of motor neuron degeneration. Glutamate is the most abundant excitatory neurotransmitter found in the central nervous system and is involved in most cognitive brain functions. Researchers have found that ALS patients tend to have increased glutamate levels in their blood and cerebrospinal fluid. There are studies that show an increase in neuron death due to long-term exposure to excessive amounts of glutamate, but scientists are still trying to determine what leads to the buildup of glutamate in ALS

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