SOD1

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    Some experiments were aimed at finding how SOD1 becomes pro-apoptotic (promoting programmed cell death) due to the fact that healthy SOD1 are against programmed cell death (Pasinelli et al. 2004). The pro-apoptotic characteristic of mutant SOD1 is demonstrated in vivo and in vitro. The mitochondria inside cells firmly control apoptosis, and the mutant SOD1 that aggregates inside mitochondria triggers the programmed cell death of motor neurons (Pasinelli et al. 2004). One experiment studied proteins that interact with mutant SOD1, specifically Bcl-2 which is anti-apoptotic, in order to explain the apoptotic nature of mutant SOD1 (Pasinelli et al. 2004). The methods that were used involve in vitro approaches and Western blot analysis. The outcomes were that mutant SOD1 and Bcl-2 interact with each other in vivo in the spinal cord, and they both together are pro-apoptotic (Pasinelli et al. 2004). In other words, Bcl-2 was an anti-apoptotic protein when standing alone, and when it directly interacted with mutant SOD1, the protein and the gene convert to pro-apoptosis, or in support of cell death; this could be due to a conformational change in Bcl-2.…

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    Lou Gehrig's Disease

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    They did studies into whether the SOD1 mutant could cause amyloid fibrils, under normal physiological conditions. You may be wondering what this has to do with fALS, well quite basically amyloid fibrils are extremely strong, highly ordered and destructive fibrils that accumulate in tissues and assist in the progression of neurodegenerative diseases, such as Alzheimer’s or Parkinson’s disease. The focus of the research was to mainly understand the structural basis for the formation of amyloid…

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    Glutamatic Synthesis

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    ALS is a multi-factorial neurodegenerative disease that affects the upper and lower motor neurons of the spinal cord. It is found in both familial and sporadic forms. Familial ALS is recognized by mutant SOD1 which fails to convert reactive oxygen species to hydrogen peroxide and/or water; however, studies have shown the presence of SOD1 aggregates in sporadic forms as well (Redler and Dokholyan, 2012). This is due to the ability of wild-type SOD1 to become toxic due to oxidative stresses in the…

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    ALS Synthesis Essay

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    Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease in which there is a loss of motor neurons in the brain and spinal cord, this disease is incurable therefore leading to paralysis and death. The particular two studies discussed will be based on how biomarkers (a tool used by scientist to determine the biological pathways and the progress of the disease) can help find a cure for ALS by creating an effective drug and most importantly early detection. Mice were used as a transgenic…

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    This process involves oxygen in the break down of glucose, resulting in the production of two important free radicals – superoxide radical and hydroxyl radical (Bogdanov et al., 1998). Among these two, the hydroxyl radical is the most potent one; however, if these radicals are not broken down into pieces, then they will accumulate in high concentrations and will eventually begin to kill cells. There is no clear cut pathophysiology known yet, but there are possible mechanisms that are at the root…

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    The C90RF72 gene however, creates a protein located in the brain that has an unusual relationship with neurons as it is often found around the cytoplasm of those specific cells. Similar to the SOD1 gene, if a mutation arises the protein will no longer operate efficiently leading to a malfunction within the neuron cells and is highly considered to be the prime reason for the genetic disorder. Despite the effects and causes of MND it can be clearly said that the disease is increasing in terms of…

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    xanthine oxidase by arsenic minimizes O2 reduction to form H2O2 during the formation of hypoxanthine to xanthine and xanthine to uric acid [58]. This incident results in the deleterious effects like decline in antioxidant capacity as a result of low urate level and decrease in rate of oxidation of more toxic arsenite (+3) to less toxic arsenate (+5) (Aposhian et al. 2003). Hydrogen peroxide is reduced to H2O by antioxidant enzymes like peroxidase and catalase [59]. In the present study, green…

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    Fragile X Syndrome (FXS)

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    conformation is not observed in endogenous mRNA (Joachimi et al., 2009). On the other hand, the RGG box depends on the methylation to recognize stem-G-quarter loops (Blackwell et al., 2010). Although the exact mechanism of how ribosome stalling and miRNA-directed translational repression relate to each other, it appears that phosphorylation of FMRP primarily triggers the release of translational repression of FMRP-bound transcripts in miRNA-mediated repression. Moreover, according to Napoli et…

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    “…identified a GGGGCC hexanucleotide repeat within the non-coding region of a gene on chromosome 9p21” (“New Genetic,” 2014). It is said to be the most common cause of ALS that is currently known, and the Mayo Clinic has had the same findings. There is also the discovery of SOD1, a gene believed to be responsible for 20% of all inherited ALS cases (“Research,” 2014). Currently there is a clinical trial of ISIS-SOD1, which is a medication that stops the production of the SOD1 gene in patients…

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    brain to control muscle movement. Since most motor neurons are lost, the patients may eventually become completely paralyzed. Motor neurons can no longer send signals or impulses to the muscle fiber resulting in no muscle movement whatsoever (www.alsa.org). The cause of ALS is still puzzling to most researchers. The physiology of the Lou Gehrigs disease is difficult to find. About 5-10% of cases of this disease are inherited from the patients parents. The main issue with ALS is the death of…

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