Mitochondrial Disease Research Paper

Billy Best, the 16-year-old cancer patient diagnosed in the summer with the lymph system cancer called Hodgkin's disease, indicates an 80 percent chance of cure through chemotherapy and radiation. However, if Billy Best's parents and doctors wanted to force the 16-year-old cancer patient to undergo more chemotherapy, authorities in law and medicine say that course may be impossible, for all practical purposes because the cancer patient refused further treatments as he acclaims to toxicity within the therapy treatment. Billy Best went through five months of treatment, but the doctors insist for additional stay to eliminate the tumor. Since the doctors received consent from the parent to continue with further treatment, it brings upon the autonomy

Duchenne Muscular Dystrophy is an X-linked genetic disorder caused by a genetic mutation in the dystrophin gene. The disorder is recessive, therefore males are more at risk for displaying the mutation than women. However, women can be carriers and have mild effects. Duchenne Muscular Dystrophy affects the neuromuscular systems, which can result in deterioration of muscles and eventually death.1 The disorder usually presents itself in early childhood, and can affect the respiratory and cardio systems. The disease can cause spinal problems, respiratory problems, intellectual disability, and cardiac disease which is the main cause of death.4

To begin, mitochondrial neurogastrointestinal encephalopathy disease is related to adenosine triphosphate because it lowers the production. In a case report on Hindawi called “ Anesthetic Management of a Child with Mitochondrial Neurogastrointestinal Encephalopathy” it states, “ These mutations can result in a decrease in ATP production via oxidative phosphorylation in the respiratory chain found in the mitochondria, affecting tissues that have high energy demands including cardiac, nervous, and skeletal muscle tissue.” An enzyme called thymidine phosphorylase, mutates affecting how ATP is made. As a result, it affects the muscle cells of the organism because people with this disorder do not have enough energy to move their muscles in their body. Also, in Genetic Home Reference that had the topic of MNGIE, it reads “... the muscles and nerves of the digestive system do not move food through the digestive tract efficiently. The resulting digestive problems include feelings of fullness (satiety)

This essay is based on research done over a study of mitochondrial myopathy, which is a disease of the muscular system. This is a consideration of the short communication article titled; “Short- and long-term effects of endurance training in patients with mitochondrial myopathy”, published by the European Journal of Neurology 2009. This was a collaborative project authored by; T.D. Jeppesen, M. Duno, M. Schwartz, T Krag, J. Rafiq, F. Wibrand, and J. Vissing. Hosted by; Neuromuscular Research Unit, Depatment of Neurology, and the Copenhagen Muscle Center; and “Department of Clinical Genetics, University of Copenhagen, Rigshospitalet, Copenhagon, Denmark. The purpose of this research was to determine whether endurance training was safe for patients with mitochondrial myopathy.

such as walking and active sports. The mitochondria are the engines of our cells where

Mitochondria are rod-shaped organelles that can be considered the power generators of a cell. They convert oxygen and nutrients into ATP. In turn, ATP powers most of the cell’s chemical reactions that allow the cell to function. Without mitochondria, certain cells would not be able to work and do their job. The cells would not be able to obtain enough energy to survive. A cell’s mitochondria relates to workers because they supply the cell with energy, just like how workers supply their energy to do their job. The mitochondria in a cell are responsible for providing energy so the cell can function, like how workers do certain tasks to keep the business thriving. Mitochondria are found in both plant and animal cells. However, they are found in

Mitochondrion is considered the energy fuel of the cell. It is the primary site for the ATP production oxidative phosphorylation (OXPHOS) system. The mitochondrial OXPHOS machinery system is mainly composed of five multisubunits complexes (complexes I–V), which are produced by mitochondrial genome. Mitochondrial electron transport chain (ETC) has several essential physiological roles, in which, it is the main source of ATP production in the cell, in addition, its constituent enzyme complexes are a major source of ROS generation. Previous studies tested the effect of A on the mitochondrial bioenergetics function, and have concluded that direct exposure to A leads to significant impairment in the functionality of mitochondrial electron transport

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

Mitochondria: a word many people have used in their vocabulary, but one that most people fail to understand. Why is the mitochondria famously known as the powerhouse of the cell? It is because of its energy production. The mitochondria is responsible for the large majority of the production of ATP(adenosine triphosphate for those who actually care). ATP is the molecule that provides energy for most of the body’s functions. This organelle also aids in the processes of cellular differentiation(the changing of one cell type to another) and cell death(literal programmed, predetermined death of a cell). The mitochondria is made up of several different regions that help the organelle to function properly. These regions include the outer membrane,

According to the United Mitochondrial Disease Foundation (UMDF), between 1000 and 4000 children in the United States are born with the disease annually. The disease results from the failure of mitochondria, which are specialized structures in the blood stream that functions to process oxygen and convert nutrients to energy that the body can utilize to sustain life and support growth. Mitochondrial disease is a chronic genetic disorder and there are many forms of the disease, with varying symptoms that tends to affects each sufferer differently. The handful of studies that evaluate the direct effect that marijuana has on mitochondrial disease, largely focuses on its efficacy

Mitochondrial reactive oxygen species (mROS) can have two effects on the mitochondria when produced in excess. It can result in the activation of protective pathways in the mitochondria as well as activate the opening of the mitochondrial permeability transition pore (mPTP). The mPTP core is speculated to have come from the ATP synthase dimer and can arrange into a nonselective channel. The opening function of the mPTP is normal within the mitochondria, but long and frequent opening of the pore is predicted to increase aging and the chance of developing degenerative diseases. mROS is further produced when the mPTP opens for long periods of time as well as the release of calcium, NAD+, and glutathione. Excessive release of these metabolites

The cell’s mitochondrial population is normally highly dynamic and exhibits variable turnover rates. The turnover process is accomplished by an actively regulated transcriptional network for mitochondrial replenishment that is coordinated with the degradation and elimination of senescent and damaged mitochondria by selective mitochondrial autophagy or mitophagy. Although mitochondria are constantly renewed, the ongoing rate of homeostatic QC processes in vivo is fairly low (Miwa et al., 2008) on the order of days, whereas in cells, it is more rapid (Hernandez et al., 2013). Mitochondrial turnover in the rat heart has an estimated half-life of roughly two weeks (Rabinowitz and Zak, 1975). Thus, for a typical cardiomyocyte under basal conditions (~1000 mitochondria), 1.5 mitochondria would be replaced each hour. Moreover, mitochondrial turnover may be regulated by the circadian clock as a number of OXPHOS enzymes show strong diurnal variation in expression. This may be related in part to the period of fasting during sleep; therefore mitochondrial turnover at night may be more active with a few percent of the mitochondrial population replaced each night. Mitochondrial turnover rates also vary with specific metabolic status of tissues, but can be greatly

Mitochondrial damage is a normal part of aging, but is accelerated in many metabolic disorders. Chronic deficiencies and gut imbalances can destroys the mitochondrial membranes and lead to the modern diseases we see today.

These are the problems within mitochondria which is the powerhouse of cells. This condition results in damage of muscles.

Consequently, there are many methods to measure mitochondrial function. In this study, many methods were used to confirm the hypothesis of mitochondria dysfunction in HG medium, some of the methods procedures were long and complex. However, one of the easiest way to confirm mitochondrial dysfunction is to measure the ability of mitochondria to make the ATP. Absence of ATP mean mitochondrial dysfunction. This method might be enough to confirm the hypothesis of the