OriGene and ALS research
OriGene Technologies offers the full gamut in genome-wide research and diagnostic products. Amyotrophic Lateral Sclerosis (ALS) is described as a neurodegenerative disease and characterized by degeneration of upper and lower motor neurons. Therefore OriGene also offers products for ALS research. ALS is specified by mid-to-late-life onset, selective neuronal death and the formation of protein deposits in affected neuronal tissues similar to other neurodegenerative diseases, like Alzheimer's disease, Parkinson's disease and Huntington's disease. (OriGene's portfolio also covers products for Alzheimer's/Parkinson's and Huntington's disease research). Sporadic cases of ALS occur with no family history of ALS. Familial ALS is due to inherited mutations spread throughout the SOD1 polypeptide.
SOD
Superoxide dismutase (SOD) is an antioxidant enzyme and as such part of the defense system against reactive oxygen species. SOD catalyses the dismutation reaction of the superoxide radical anion (O2-) to hydrogen peroxide (H2O2) through glutathione reductase and catalase. Several classes of SODs have been identified, which include the intracellular copper/zinc SOD (Cu/Zn-SOD, SOD1), the mitochondrial manganese SOD (Mn-SOD, SOD2) and the extracellular copper/zinc SOD (ECSOD, SOD3).
SOD1
SOD1 is found in all eukaryotic species as a homodimeric 32 kDa enzyme, which contains one Cu- and one Zn-ion each. SOD1 neutralizes supercharged oxygen molecules (superoxide radicals), which can damage cells if their levels are not controlled. The mechanism through which mutant SOD1 causes ALS is not known, but instability, misfolding and aggregation of mutant SOD1 is hypothesized. Biochemical markers of SOD1 misfolding have been noticed as early indicators of ALS. One such marker is the appearance of detergent insoluble precipitates of SOD1 which correlate well with disease onset and progression.
TARDBP, TDP43
The cellular protein TAR DNA-binding protein 43 (TARDBP, TDP43) functions as a DNA-binding protein and specifically binds to the TAR DNA sequence motifs of HIV. TARDBP protein has been identified as a major pathological protein of sporadic and familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions with or without motor neuron disease. Therefore, TARDBP defines a novel class of neurodegenerative diseases called TARDBP proteinopathies.