SOD1

In the year 2012, a woman named Susan Hammack died of Amyotrophic Lateral Sclerosis (ALS) otherwise known as Lou Gehrig’s Disease. She passed away at age 64 and ended up being diagnosed 2 and a half years prior. Hammack’s disease got to the point of hospice in her own home and put on a medical respirator to help her breath. Many of her symptoms included: twitching or cramping muscles, slurred speech or trouble projecting her voice, loss of motor skills in hands and arms, tripping and falling,…

Lou Gehrig’s disease is also known as Amyotrophic Lateral Sclerosis (ALS). ALS is a disease that affects the nerve cells in the brain and the spinal cord. It is a progressive neurodegenerative disease, this eventually leads to death. The patients lose the ability for the 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…

brain, brain stem, and spinal cord of the brain. Prior to their destruction, motor neurons develop protein components in their cellular bodies and axons. These components are often combined with and combining one of the proteins associated with ALS: SOD1, TDP-43, or FUS. These components are non-amyloid aggregates. This disease has been found to contradict plaque and protein accumulation. The TDP-43 protein produced by this genetic anomaly is toxic. Patients with the disease have been found to…

tightness and weakness, slurred speech, cramps, difficulty eating, and an extreme weakness to a particular limb [Website]. The twenty-first chromosome is known to be linked to Amyotrophic Lateral Sclerosis as well as the mutated superoxide dismutase (SOD1) protein that is currently being studied close to determine if it has…

Superoxide dismutase 1 (SOD1) is a gene that has been linked to familial ALS (FALS); it results in the formation of free radicals inside the cell that disrupt cellular functions. Astrocytes are one of the cells affected by free radicals; the free radicals disrupt the glutamate…

old and 20% more often in males (ALSA, 2016). Heredity includes 5% to 10% of those diagnosed and is called is called “Familial” ALS or FALS. Abnormalities in two genes are associated with this diagnosis, the copper-zinc superoxide-dismutase (CuZn-SOD1) and most recently the alsin gene (Eisen, 2002). The remaining ALS population is diagnosed with Sporadic ALS and does not have a genetic origin. Combined, ALS affects around 20,000 to 30,000 people in the United States (ALSA, 2016)…

2-4,0 per 100,000 person-years [2]. ALS incidence increases with age, being more frequent between the 6th and 7th decades and in women more than men [3]. ALS aetiology is unknown in most cases; it is inherited in only 5-10% of cases (one third have SOD1, TARDBP and C9orf72 mutations) [1]. Similar mutations have been sporadically found in non-hereditary forms [1]. The diagnosis of ALS relays mostly…

Alkylated polycyclic aromatic compounds (alkyl-PACs) are the major aromatic constituent of total PAH in crude oil and originated from incomplete combustion process. Whereas benzo[a]pyrene (BaP) is a well-known human carcinogen, dibenzothiophene (DBT) and retene (Ret) are not; however, all three compounds are important environmental pollutants. Their toxicity is not yet characterized. In this study, we used BaP (parent PAH), DBT and Ret (alkyl-PACs) to elucidate the mechanism of neurotoxicity…

Amyotrophic Lateral Sclerosis: The disease that killed the Iron Horse Diseases do not discriminate between socioeconomic status, race or activity level and has little mercy. Amyotrophic Lateral Sclerosis (ALS), otherwise known as Lou Gehrig’s disease, is such a disease. Nicknamed the “Iron Horse”, famed first baseman for the New York Yankees Lou Gehrig, was one of the first individuals to bring ALS into the forefront of the general populations mind’s, after dying from the disease after being…

non-invasive positive pressure ventilation (1). Although the cause of ALS is unknown, it can sometimes be linked to family history. Through research, scientists have found over a dozen genetic mutations, one that includes mutations in the gene that produces SOD1 (Protein Coding gene)…