Search results
Results from the WOW.Com Content Network
Superoxide dismutase [Cu-Zn] also known as superoxide dismutase 1 or hSod1 is an enzyme that in humans is encoded by the SOD1 gene, located on chromosome 21. SOD1 is one of three human superoxide dismutases. [5] [6] It is implicated in apoptosis, familial amyotrophic lateral sclerosis and Parkinson's disease. [6] [7]
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
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]
A recent example had used iPSC of patient with SOD1 dominant mutation and they studied the motor neurons derived from the patient, and they found that the functional genes and the ER stress regulating genes of the mitochondria were reduced in SOD1 patients, similar to the effect of C9orf72 mutation on the patients. [3]
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]
Mutations in SOD1 are also associated with familial amyotrophic lateral sclerosis (Lou Gehrig's disease) in people. [5] More than 100 SOD1 gene mutations are involved in human familial amyotrophic lateral sclerosis (ALS), and the pathologic spinal lesions of ALS are similar to those of canine DM, making canine DM a potentially useful animal ...
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.
The cause of PBP is unknown. One form of PBP is found to occur within patients that have a CuZn-superoxide dismutase (SOD1) mutation. [7] Progressive bulbar palsy patients that have this mutation are classified with FALS patients, Familial ALS (FALS) accounts for about 5%-10% of all ALS cases and is caused by genetic factors.