Mutations of the Superoxide Dismutase Gene are Associated with Amyotrophic Lateral Sclerosis

Recent studies have provided insight into the possible causes of familial amyotrophic lateral sclerosis (FALS). This disease occurs only in 10% of known cases of ALS, sporadic, non-hereditary dominance [7, 9]. ALS generally occurs 0.4 to 8 times per 100,000 births [1]. ALS is known as Lou Gehrig disease, Charcot disease and motor neuron disease in other literature [4]. ALS is a neurodegenerative disorder of upper and lower motor neurons that may manifest in a possible misdiagnosed manner.

The cause of this illness is unknown. Recent studies have shown that SOD1 gene mutation is a risk factor for degenerative myelosis in some breeds. Mutations in SOD1 are also associated with human familial amyotrophic lateral sclerosis (Lou Gehrig disease). More than 100 SOD1 gene mutations are involved in human familial amyotrophic lateral sclerosis (ALS), the pathological spinal cord lesions of ALS are similar to canine DM and canine DM is potentially It is a useful animal model. Prior to the diagnosis of degenerative myelopathy, it is necessary to exclude the cause of known spinal dysfunction; with similar signs of degenerative myelopathy, intervertebral disc disease (overhang) or spinal cord tumor may cause spinal cord compression There.

Amyotrophic lateral sclerosis or Lou Gehrig disease is a progressive disease that attacks motor neurons, a component of the nervous system that connects the brain to skeletal muscle or voluntary muscle. "Although there is no inflammation, the main pathological feature of ALS is degeneration of lower and upper motor neurons" (Boss, 1998) In less than 2% of patients, ALS regulates oxidative stress by superoxide dismutase SOD 1 It is caused by a mutation in the gene encoding. 88% of ALS cases are unknown. (Hum - molgen, 2001) Motor neurons affected by ALS are also referred to as anterior horn cells because they are located in the anterior or anterior part of the spinal cord. Anterior horn cells are the nerve that sends information from the spinal cord to the muscle. (Hole in 1981)

In particular, the omega-grade GST (GSTO) gene is associated with neurological diseases such as Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, etc. It is thought that oxidative stress is the cause, and the expression of GSTO gene decreases It causes disease. The age of onset will decrease. High concentrations of intracellular GST in combination with its cell-specific cell distribution allow them to act as biomarkers for localization to specific cell types and monitoring damage. For example, it has been found that hepatocytes contain high levels of αGST and serum αGST is indicative of hepatocellular injury, toxicity and viral infection during transplantation.