Mitochondrial Disease Research Paper

In the United Kingdom alone, 150 new born children per year suffer from life threatening, mitochondrial diseases. These diseases vary in severity from person to person, making them difficult to diagnose, and they inflict an array of ailments such as neurological problems, muscle weakness, visual or auditory impairments, heart, liver, and kidney disease,

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

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)

Mitochondria are often referred to as the powerhouses of the cells. They generate the energy that our cells need to do their jobs. For example, brain cells need a lot of energy to be able to communicate with each other and also to communicate with parts of the body that may be far away, to do this substances need to be transported along the cells, which needs lots of energy. Muscle fibres also need a lot of energy to help us to move, maintain our posture and lift objects.

Secondary Mitochondrial Disease can occur when mitochondria are damaged by oxidative stress includes diseases like Parkinson's or Alzheimer's (research still going on). The connection between other diseases and mitochondrial disease is being still being studied as it has a wide range of different effects on the body. Primary Mitochondrial Disease can be due to mutated genes that are passed on or inherited or can be sporadic. Mitochondrial disease may be inherited from the mitochondrial DNA or from nuclear DNA. It can also be a spontaneous

This would mean that the cells that require a lot of energy however would not get it, which would result in tiredness, fatigue and the body not functioning efficiently. Also, diseases that affect the mitochondria can affect the functions and cause death of many numbers of cells which can damage the vital internal organs and the body as entirety. We would not live if all the mitochondria in the liver cell were to be destroyed. As mitochondrion is known as the power house of energy, it provides energy to it. The electron micrograph shows the rough endoplasmic reticulum and mitochondria of a liver cell. It also shows there are a lot of mitochondria in the liver cell because the body arranged this specific organ to do perform a variety functions. The reason why liver cells have a high number of mitochondria is because it has to get a lot of energy at one time in order to be more efficient. The liver itself is the largest internal organ in the whole body and hence requiring a large amount of mitochondria to perform at a suitable, appropriate and efficient level. Being the largest organ, it is necessary for it to have a significant amount of mitochondria as it needs a tremendous amount of energy or it shall stop functioning and problems will arise like liver

The hub of energy metabolism, the mitochondrion, is found in virtually all eukaryotic cells, with the exception being erythrocytes. The mitochondrion generates cellular energy in the form of adenosine triphosphate (ATP), mostly by means of the oxidative phosphorylation (OXPHOS) system that is located in the inner mitochondrial membrane. The respiratory chain (CI-CIV) and ATP synthase (CV) is collectively known as the OXPHOS system, encoded by both nuclear DNA (nDNA) and mitochondrial DNA (mtDNA). The number of mitochondria per cell, ranging from hundreds to thousands, is controlled by the energy requirements of specific tissues with the greatest abundance of mitochondria found in metabolic active tissue (Pieczenik and Neustadt, 2007). Mitochondrial disease is caused when there is a defect in any of the numerous mitochondrial pathways, due to spontaneous or inherited mutations. Respiratory chain deficiencies (RCDs) are the largest subgroup of mitochondrial disease and occur when one of the four respiratory chain complexes become impaired. RCDs are considered to be one of the most common

Based on the above-mentioned close relationship, a strict communication between mitochondria, chloroplasts and the nucleus is indispensible. Hundreds of genetic diseases in humans and thousands of phenotypic variations in plants and other organisms are known to be the result of alterations affecting nuclear-mitochondrial (NM) communication. These communication mechanisms include both nucleus to organelle (antrograde) and organelle

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.

Mitochondrial disease is the malfunctioning of the mitochondria organelle located in every cell of the human body except the red blood cells. These organelles are responsible for the synthesis of 90% of the ATP energy required for a normal bodily function. Consequently if a patient is diagnosed with mtDNA disease, their individual cells will generate less energy than required resulting

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

Mitochondria are the powerhouses of every cell in our bodies. According to the United Mitochondrial Disease Foundation, the mitochondrial produce most of the energy for the body (United Mitochondrial Disease Foundation). When this process is interrupted or does not take place then cellular damage begins to occur (United Mitochondrial Disease Foundation). Rolf Luft, Lars Ernster, and Bjorn Afzelius are credited with the first diagnosis of mitochondrial disease via muscle biopsy in 1962 (DiMauro, 2011). Succinctly, it is a “defect in the respiratory chain (DiMauro, 2011)”. Since mitochondria are in every cell in the body, and cells are specialized to the organ system to which they belong, the disease will manifest different symptoms in different individuals based on the organ system(s) affected (United Mitochondrial Disease Foundation). Symptoms can be present from every organ system, however, depending upon the actual genetic encoding affecting the mitochondrial can determine which disease classification a patient may fall within (DiMauro, 2011), (United Mitochondrial Disease Foundation).

Functional mitochondria is essential for all living cells, it convert the energy from food into a form that cells can use, adenosine triphosphate (ATP). Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA which represents less than 1% of total cellular DNA. The human mitochondrial DNA (mtDNA), maternally inherited. It is made up of 16,571bp with

Many students know mitochondria as “the powerhouse of the cell” whose main role is to make energy for the cell. Mitochondria produce the majority of the body’s energy. While energy synthesis is a very important role, it is not the only role that mitochondria play. Production of a mitochondrion requires 3000 genes; the mitochondrion itself codes 37 genes, called mitochondrial DNA (mtDNA). The nucleus houses the rest of the genes. For ATP synthesis, mitochondria use about 3% of its three thousand genes. Other functions of mitochondria can change as humans develop, and mitochondria in specific types of cells have specialized functions. Functions of mitochondria involve building, breaking, and recycling molecules, including DNA and RNA, detoxification,