Friedreich's Ataxia Analysis

With all living organisms, a process known as cell respiration is integral in order to provide the body with an essential form of energy, adenosine triphosphate (ATP). Oxygen, although an essential part of this process, can form reactants from colliding with electrons associated with carrier molecules. (pb101.rcsb.org, 2017). Hydrogen peroxide is an integral product of this reaction but is known to impose negative effects on the body if high levels are introduced. Explicitly, this reaction is caused “If oxygen runs into (one of these) carrier molecules, the electron may be accidentally transferred to it. This converts oxygen into dangerous compounds such as superoxide radicals and hydrogen peroxide, which can attack the delicate sulphur atoms and metal ions in proteins.” (pdbh101.rcb.org, 2017). Research has suggested that the hydrogen peroxide can be converted into hydroxyl radicals, known to mutate DNA, which can potentially cause bodily harm due to DNA’s role in the synthesis of proteins. These radicals can cause detrimental effects on the human body, and studies have suggested a link to ageing. Due to the harmful effects of these H2o2, it is important that the body finds a way to dispose of hydrogen peroxide before concentrations are too great.

What is survival? The book Gabe & Izzy by Gabrielle Ford with Sarah Thomson is a perfect example of survival! Survival means to live or exist in spite of an accident, ordeal, or difficult circumstances. In this book Gabe survives a diagnosis of Friedreich’s Ataxia, which causes her to be bullied everyday at school. She also experiences the death of her dog and best friend, Izzy.

Parkinson's disease affects the way you move. It happens when there is a problem with certain nerve cells in the brain. Normally, these nerve cells make an important chemical called dopamine. Dopamine sends signals to the part of your brain that controls movement. Some conspiracy theories makes us happy by creating a picture where hitler was finally reduced to a trembling, almost rigid person with the mood swings of a woman at her worst PMS, shambling through a burnt, destroyed, and pillaged Nazi regime because he was inflicted by parkinson's disease in the final days of his life. Although it is rumored that hitler really had this disease. It was highly unlikely that he died from it due to the fact that parkinson's disease does not kill by

Ataxia Telangiectasia (AT) is an autosomal recessive disorder that is primarily characterized by progressive cerebellar ataxia, caused by a mutation in the ATM (Ataxia Telangiectasia Mutated) gene which plays a crucial role in DNA repair. According to Delgado in 2015, cerebellar ataxia occurs when the cerebellum becomes inflamed or damaged. The cerebellum is the area of the brain responsible for controlling gait and muscle coordination, thus AT disease symptoms show a loss of control of muscle coordination (Delgado, 2015). It can also be characterized by telangiectasia; this is a condition in which dilated venules (tiny blood vessels) cause threadlike red lines or patterns on the skin (Delgado, 2015). These patterns, or telangiectases, form

Friedreich’s Ataxia is a devastating disease. It is genetically inherited and damages your nervous system. Comparing a primary and secondary of the articles on Friedreich’s Ataxia. In the primary article is goes into depth, is formal, and other scientists use it for research. While, a secondary article is just a summary, informal, and it is more for people interested in the topic.

K.K is a 43 year old male with a history of an advanced Friedreich’s ataxia and chronic pain. He is on hospice through Heartland Hospice. Staff reports that resident had a fall over the weekend from his wheel chair while he was trying to put a hot cup of coffee on his bed side table and landed on his buttocks and he spilled his coffee on his left foot and he sustained a second degree burn. Staff has been treating his burn with silvadene and gauze dressing. When I asked resident if he is has pain, he stated has pain everywhere most of the time. States that he has had pain for more than 20 years. He describes the pain as a “stabbing ” when it’s worse. When I asked K.K what his pain level was on a scale of 0-10, he would not give me a number,

This results in increased energy expenditure, fuel mobilization and oxidation for energy extraction, oxygen consumption, respiratory rate, and heat production and release (Dauncey.,1990). The stimulation of the respiratory rate would intuitively lead to greater ROS production but, the relation between these two variables is not linear. Instead, ROS production depends largely on the mitochondria. Mitochondria are the primary intracellular site of oxygen consumption and the major source of reactive oxygen species (ROS), most of them originating from the mitochondrial respiratory chain(Armstong &Jones.,2002). Although THs do not directly determine the respiratory state of the mitochondria (Katyare and Raian.,2005), stimulation by THs by augmenting ATP breakdown by different energy-consuming mechanisms in the cell (Dauncey.,1990) and thus increasing ADP availability. This would be expected to decrease ROS production. However, THs also promote a reduction state in the cell by increasing fuel availability and extramitochondrial production of ATP and NADH, which in turn promote reduction of the components of the mitochondrial respiratory chain

Friedreich’s Ataxia (FA)  Friedreich’s Ataxia (FA) is a neuro­muscular disorder which  is life shortening. Most diagnoses occur within 5­18 years of  age. FA is also very rare, which only one in 50,000 people  in the United States have.  Some of the symptoms that may occur are:

Mitochondria are a major source of cell superoxide generation that in turn yields a spectrum of secondary reactive species. They serve multiple functions, including regulation of intracellular calcium stores, ATP production, activation of caspases, and regulation of redox signaling. The outer mitochondrial membrane is porous and allows for passage of low molecular substances between the cytosol, the inter-mitochondrial compartment, and the matrix. Mitochondrial dysfunction is characterized by a decreased ATP production, decreased membrane potential, decreased expression of mitochondrial complexes I, III, IV and increased mitochondrial respiration and ROS production, has been observed in the inflamed airways of asthmatic subjects. Excessive

There is ongoing research aimed at reducing mitochondrial dysfunction and detecting molecules that increase frataxin expression. Human frataxin is synthesized as a 210 amino acid precursor targeted for the mitochondrion (Rufini et al., 2010). As soon as the frataxin precursor enters into the mitochondria, it is mediated by the mitochondrial processing peptidase as it undergoes a two-step proteolytic-process, resulting in a mature frataxin that resides in the mitochondrial matrix. The mature frataxin, which is a globular polypeptide, is involved in the iron-sulfur cluster assembly that occurs in the matrix. The frataxin reduces the activity of Iron-Sulfur Cluster (ISC)- containing enzymes, more specifically, aconitase, which leads to defective ATP

Mitochondria are the major source of generate ATP production in respiratory chain. (Lehninger et al 1993, Keizo Torii 1992) The effect of age associated changes of mitochondria is produced oxidant maybe due to changes of during electron transport cycle. Hilaire Bakala (et al 2012) Dysfunction of mitochondria produce excessive free radicals it causes mtDNA mutation, reduced mitochondrial ATP production, impair calcium homeostasis it’s a key role in aging process (Kashyap B. Choksi 2007, Reddy and Beal, 2005 Birket and Birch-Machin,

Hypokinetic dysarthria describes a patient with low amplitude, hoarse voice, and little intonation in speech. Speed of production is slower, and initiating speech can be difficult. These speakers due to coarticulation often miss target sounds, which results in inaccurate consonant productions. These speakers may experience difficulty with facial movement during speech and get stuck on certain syllables.

Ataxia-telangiectasia is a relatively rare disease seen in about 1 in 100,000 births. A-T is caused by a mutant heterozygous allele, which has a frequency of 1.4-2% of the general populations (Janniger, 2015). Although rare, Ataxia Telangiectasia has been reported in all regions of the world and exhibit equal distribution amongst male and female. There is no race specifies however, mortality ratios differ between ethnic groups. Though signs appear at two different hallmarks, characteristics features are usual not detected in early childhood. Ataxia signs generally appear between the ages of 1-6 years (“Ataxia-telangiectasia”, 2014). Ataxia is the first diagnostics hallmark which progress becoming increasingly apparent as the child reaches age

A newer model for toxin-induced Parkinsonism is based on the herbizide rotenone. Rotenone is the most potent member of the rotenoids, a family of natural cytotoxic compounds extracted from various parts of Leguminosa plants. Like MPTP, rotenone is highly lipophilic and brain distribution is heterogeneous paralleling regional differences in oxidative metabolism (Talpade, Greene et al. 2000). In mitochondria, rotenone impairs oxidative phosphorylation by inhibiting nicotinamide adenine dinucleotide (NADH)-ubiquinone reductase activity through its binding to the PSST subunit of the multipolypeptide enzyme complex I of the electron transport chain (Schuler and Casida 2001). Aside from its action on mitochondrial respiration, rotenone also inhibits

Epicurus was a revered philosopher in ancient Greece during the late 4th century bce with his teachings focusing on living simply and without vanity. Epicurean philosophy is a way to approach life and learning with Epicurus believing “The aim of knowledge is freedom from fear and mental uncertainty” (Hibler, 21); to achieve this freedom Epicurus said a person needed to, “live pleasurably…prudently, honorable, and justly” (Letter to Menoeceus, 4).