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The first gene to be associated with ALS was SOD1, which was identified in 1993. It was the first time that linkage analysis was successful in identifying the genetic cause of a rare neurodegenerative disorder. [6] SOD1 is one of the most common genes
SOD1 binds copper and zinc ions and is one of three superoxide dismutases responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic and mitochondrial intermembrane space protein, acting as a homodimer to convert naturally occurring, but harmful, superoxide radicals to molecular oxygen and hydrogen peroxide.
A study introduced the SOD1/GFP transgenic zebra-fish to study that specific gene on the development and occurrence of ALS in the fish, and how can that be used in testing potential therapeutic molecules. [7] All the previous models are considered simple, and save time and money due to their short lifespan and small and simple body structure. [4]
The Center was opened in addition to the continual operation of three research laboratories and the Lois Insolia ALS Clinic. [10] Among the Center's contributions to ALS research have been the 1993 co-discovery of the first genetic mutation linked to cause ALS, SOD1, [11] [12] as well as FUS in 2009 [13] [14] and others linked to familial ALS.
Knockout or null mutations in SOD1 are highly detrimental to aerobic growth in the budding yeast Saccharomyces cerevisiae and result in a dramatic reduction in post-diauxic lifespan. In wild-type S. cerevisiae, DNA damage rates increased 3-fold with age, but more than 5-fold in mutants deleted for either the SOD1 or SOD2 genes. [36]
Juvenile ALS is more likely to be genetic in origin than adult-onset ALS; the most common genes associated with juvenile ALS are FUS, ALS2, and SETX. [31] Although most people with juvenile ALS live longer than those with adult-onset ALS, some of them have specific mutations in FUS and SOD1 that are associated with a poor prognosis. [32]
The Foundation's first therapy concept was to replace EAAT2 protein using gene therapy. [2] [4] In 2004, the Foundation moved to a 16,000-square-foot (1,500 m 2) location in Cambridge, Massachusetts with an in-house lab. ALS TDF constructed a biosafety level 2 lab in 2005, allowing for the expansion of "gene therapy and cell-based treatment ...
An ALS mouse model through gain-of-function mutations in SOD1 has been developed. [50] c9orf72 A gene called c9orf72 was found to have a hexanucleotide repeat in the non-coding region of the gene in association with ALS and ALS-FTD. [51] These hexanucleotide repeats may be present in up 40% of familial ALS cases and 10% of sporadic cases.