Amyotrophic lateral sclerosis, also known as ALS or Lou Gehrig’s disease, is a neurological disorder that affects roughly one in 200,000 people (DiDonato et al., 2003). As such, ALS is among the most common neurological disorders found in humans. It typically occurs mid-life and kills motor neurons, which leads to paralysis and death. Most cases of ALS do not show a genetic linkage. However, five to ten percent of cases are, in fact, inherited in an autosomal recessive manner (DiDonato et al., 2003). This inherited ALS is referred to as familial ALS (FALS), and twenty percent of these cases are connected to mutations in the SOD1 gene.
The SOD1 gene encodes a copper,zinc superoxide dismutase (DiDonato et al., 2003). This dismutase is an extremely stable homodimer that acts as an antioxidant enzyme. It converts harmful superoxide radicals to oxygen and hydrogen peroxide. Over 100 different SOD1
…show more content…
conducted a study in hopes of revealing more information about the unknown mechanism linking SOD1 mutations to FALS. To do this, they conducted structural, biochemical, and biophysical characterizations of two FALS mutant SOD proteins. The study revealed that point mutations lead to destabilization in the protein architecture, which results in the formation of aggregates. Free cysteine residues worsen aggregation because they form disulfide bonds that lock the aggregates in place. Ultimately, the results provide the following mechanism: framework and dimer destabilization lead to the formation of aggregates, which then cause damage to mitochondria and motor neurons. A study conducted by Furukawa et al. provides results that are in agreement with this mechanism. Furukawa et al. tested a FALS mice model in which incorrect disulfide bonds led to the formation of SOD1 aggregates. They found significant amounts of disulfide cross-linked SOD1 aggregates in the spinal cord of symptomatic mice, while no such aggregates were found in non-symptomatic and control
Tay-Sachs disease is a form of these lysosomal storage diseases. It is scientifically known as GM2 gangliosidosis: Hexosaminidase alpha-subunit deficiency. Three polypeptides encoded by three separate locations on the chromosome are needed for the catabolism of GM2 gangliosides. When these genes are mutated, the result is a buildup of the glycosphingolipid GM2 gangliosides. Over 50 mutations have been identified. Tay-Sachs disease is the most common form of gangliosidosis and results from a mutation of the alpha-subunit location on chromosome 15. This causes a severe dysfunction in the enzyme hexosaminidase A.
Amyotrophic Lateral Sclerosis is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Amyotrophic Lateral Sclerosis is better known as ALS or Lou Gehrig’s disease. Amyotrophic Lateral Sclerosis was not brought to International or national attention until Famous New York Yankees baseball player, Lou Gehrig, was diagnosed with it in 1939. Jon Stone, the writer and creator of Sesame Street, was also diagnosed with Amyotrophic Lateral Sclerosis. Amyotrophic Lateral Sclerosis is very deadly and it physically handicaps a person as it progresses. There are two types of Amyotrophic Lateral Sclerosis, Sporadic and Familial. Sporadic is the most common cause in some cases and Familial is inherited, which is rare. Amyotrophic Lateral Sclerosis is one of the most aggressive muscular atrophy disorders, it has many signs and symptoms, and it can be treated but cannot be cured.
Neurodegeneration is used mainly for diseases that are characterised by progressive loss of structure and function of neurons. There are many neurodegenerative diseases including amyotrophic lateral sclerosis that...
TSEs or more commonly prion diseases are a group of invariably fatal neurodegenerative diseases that occur in humans and animals . This disease is caused by a protease –resistant protein (PrPsc) after misfolding of a host-encoded prion protein (PrP). TSEs can exist as genetic, infectious or sporadic forms. The diseases are characterized by dementia, ataxia and neuropathlogically due to loss of specific neurons in the brain. Other clinical features include persistent painful stimuli, dystonia, visual or cerebellar problems and gliosis (1).
performance that involves, but is not limited to, a loss in at least 2 of the
Alzheimer’s disease is a complex illness that affects the brain tissue directly and undergoes gradual memory and behavioral changes which makes it difficult to diagnose. It is known to be the most common form of dementia and is irreversible. Over four million older Americans have Alzheimer’s, and that number is expected to triple in the next twenty years as more people live into their eighties and nineties. (Johnson, 1989). There is still no cure for Alzheimer’s but throughout the past few years a lot of progress has been made.
Amyotrophic lateral sclerosis, or ALS, is a degenerative disease affecting the human nervous system. It is a deadly disease that cripples and kills its victims due to a breakdown in the body’s motor neurons. Motor neurons are nerve cells in the brainstem and spinal cord that control muscle contractions. In ALS, these neurons deteriorate to a point that all movement, including breathing, halts. Muscle weakness first develops in the muscles of body parts distant from the brain, such as the hands, and subsequently spreads through other muscle groups closer to the brain. Such early symptoms as this, however, can hardly be noticed.
Oxygen is an essential component for cellular metabolic processes. As a result of normal cellular metabolism, oxidative products i.e. oxygen free radicals or reactive oxygen species are produced. In eukaryotic cells energy is generated in mitochondria as a result of aerobic respiration and this oxidative metabolism is responsible for formation of various compounds. Nearly all of these compounds are advantageous but a small proportion could be lethal if produced in higher concentration. During normal conditions small quantities of oxidative products are necessary for certain sub cellular events, including enzyme activation, formation of disulfide bond during the folding of new proteins, signal transduction and gene expression etc. (Yu etal., 2002; Droge, 2002). Oxidative stress can be defined as the excessive production of ROS which are not adequately removed from the body, because of reduced antioxidant defense system or the ROS increases beyond the capacity of antioxidants. The balance between oxidants and antioxidants is vital because oxidative stress can cause oxidative damages to N.A, lipids and proteins. The most important ROS are superoxide anion (O2−), singlet oxygen (O2), hydrogen peroxide (H2O2) and highly reactive hydroxyl radical (OH-). Whereas, antioxidant defense system is responsible to give protection against ROS. These antioxidants can scavenge and destroy ROS. The major antioxidant enzymes are catalase (CAT), superoxide dismutase (SOD) PON ….. and glutathione system (Sies, 1985; Valko et al., 2007; Halliwell and Gutteridge, 1990).
Imagine if you loss control of your body but your mind stayed unaffected. You would be a prisoner in your own body, all leading up to your death sentence. That is the sad fate for the people diagnosed with Amyotrophic lateral sclerosis (ALS). “Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder was first described by Ran in 1850. This description was then expanded in 1873 by Charcot, who emphasized the involvement of the corticospinal tracts. In the United States, ALS is often referred to as Lou Gehrig's disease, after the famous ball player who was stricken by the disease in the midst of his career. (Yale School of Medicine, 2014)” In this paper will go through the definition, the process, the signs, the risk factors, etiology, and discus the known people that have suffered with this terminal disease.
In this day and age, it seems as though almost everyone has experience a loved one taken away form a very serious disease known as Alzheimer’s disease. Alzheimer’s disease is unbelievably devastating for everyone affected by it. This disease is causing major economical problems such as less occupancy in the nursing homes, and hospitals due to the rising population of elderly men and women being diagnosed with it everyday. Because there is not yet a cure for this disease and the percent of the population being diagnosed keeps rapidly rising, more time and money needs to go towards Alzheimer’s research.
Alzheimer's Disease Introduction to Alzheimer's Alzheimer's disease is a progressive, degenerative disease of the brain. It was first described by the German neuropathologist Alois Alzheimer (1864-1915). in 1905. This disease worsens with advancing age, although there is no evidence. that it is caused by the aging process.
Alzheimer’s disease, named after Dr. Alois Alzheimer, is a disease that is on the rise in America and the rest of the world. People should learn as much as they want about this disease, because as you age, your chances of becoming an Alzheimer’s Disease, or AD, patient increases. It is estimated that approximately 3 percent of Americans between the ages of 65 and 74 have the illness, and more than half of all people over age 85 have the ailment.
Amyotrophic lateral sclerosis (ASL), Lou Gehrig’s disease, a brutal, unforgiving illness of the neurological system with no known cure.
This is a neurodegenerative disease, meaning it results in progressive loss or death of neurons. It often starts off with effecting simple motor skills like writing and holding things, after a few months usually patients start losing the ability to walk, talk, or move any of their limbs. Although the brain trauma is what causes it, ALS has little-no-effect on the brain. This fatal disease is typically diagnosed around age 60 and most patients are given about 3-5 years to live after being diagnosed. It has been found that 10% of cases are shown as genetic. It was brought to attention that athletes were beginning to get diagnosed with ALS at a younger age than most. After extensive research in the early 2000’s, Brain Analyst, Dr. Mckee ran tests and finally came to the conclusion that the toxic proteins in the brains of ALS patients were coming from repeated blows to the head. It was then made evident why so many athletes in contact sports such as football, soccer, boxing, etc… were being diagnosed at such a young age and more frequently than
This is a type of reaction where a molecule is broken down into smaller pieces. It is called an anabolic reaction. This experiment is the breakdown of hydrogen peroxide to form water and oxygen in the air. Catalase is found in a cell organelle called the peroxisome. Peroxisomes in animal cells are occupied in the decomposition of