A/G polymorphism (rs2070424) is the least studied polymorphism in relation to its association with different diseases.
86 Table 2 Gene expression profile of SOD1
, CAT, GR and GPx demonstrated by real time RT-PCR.
Key words: BAC library Bubalus bubalis Murrah breed Pyrosequencing SOD1
Immunohistochemical analysis revealed that FALS model mice, which express the ALS-linked SOD1
(mut)), exhibit activation of ASK1 and p38 concomitant with motor neuron death.
Other theories have been proposed, including defective axonal transport, toxicity of misfolded mutant SOD1
proteins (possibly combined with failure of the proteasome and chaperone systems), contribution from inflammatory responses, and reduced signaling by the vascular endothelial growth factor (Lederer & Santama, 2007).
The only known cause of ALS is mutation of a specific gene: SOD1
gene, according to association's website.
The team tracked the fate of NG2+ cells in both normal mice and mice with a mutant form of the SOD1
gene that causes ALS.
In a study published yesterday in Nature Neuroscience, scientists said the SOD1
gene, which is implicated in 20 percent of inherited cases of ALS, or Lou Gehrig's disease, also plays a part in sporadic forms of the disease.
Basically, high HDRS scores were correlated with high SOD1
activity, which may indicate a reactive antioxidant response by the body to severe depression (24).
Approximately 20% of all familial ALS cases are caused by a mutant form of superoxide dismutase, or SOD1
Why motor neurons in the brain and spinal cord are particularly sensitive to SOD1
mutations is unknown.
A small subset of those with the disease have mutations in the gene for SOD1
that lead to clumping of the protein and the death of neurons that direct motion.
The potential for the use of mononuclear cells from human umbilical cord blood in the treatment of amyotrophic lateral sclerosis in SOD1
She said: "The gene in my family is called SOD1
, which is a very appropriate name", she laughs.
A major lead was the identification of several dominant mutations in the superoxide dismutase gene SOD1
responsible for familial-linked ALS, which represents only 10% of all ALS cases (Rosen et al.