The Base of Mitochondrial Diseases Essay

Mitochondria DNA can be different than nuclear DNA in many ways. Alice R. Isenberg stated that, “Mitochondria DNA differs from nuclear DNA in its location inheritance mode, quantity of cell and sequences” (17). Another example would be that a nuclear DNA has 46 chromosomes where you inherit 23 from your mom and 23 from your dad. The nuclear DNA is long with centromeres and telomeres. In addition, mitochondria DNA have one chromosome and short. Isenberg also stated that in the outer layer cell you

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

In vertebrates, Drp1 is recruited to the fission sites by a few proteins including Mff; experiments by Otera et al. showed that knockout of Mff reduced mitochondrial division due to decreased Drp1 recruitment [5]. Subsequent experiments revealed that ER-mitochondria contact sites might be related to mitochondrial division. Rowland et al. showed that the contact sites co-localized significantly with both Drp1 and Mff [1]. Friedman et al. used fluorescent live imaging to study ER and mitochondria dynamics and found that 87% of division events were “spatially linked” to the contact sites [6]. Although ER-mitochondria contacts and fission appear to be interrelated, they are independently regulated. Friedman et al. demonstrated that contact sites remained intact in Drp1 and Mff knockouts [6]. In addition, the contacts were intact after mitochondrial division was complete

The former are transmitted by maternal inheritance, while the latter have Mendelian inheritance. Most individuals with Leigh’s syndrome have an autosomal recessive or X-linked disorder of mitochondrial energy generation rather than an mtDNA mutation (Thorburn and Rahman 2003). Leigh’s syndrome arises mainly due to “dysfunction of the mitochondrial respiratory chain” (Chinnery 2000). An important cause of Leigh’s syndrome is “mutations in the complex IV assembly genes, particularly SURF1” (Lee et al. 2012). The SURF1 gene is found in nuclear DNA and is located on the long arm of chromosome 9. The gene defect in Leigh’s syndrome has been mapped to chromosome 9q34. SURF1 belongs to a family of genes called mitochondrial respiratory chain assembly factors and encodes a protein restricted to the inner membrane of the mitochondria. This SURF1 protein contains a unique mitochondrial targeting sequence at its N-terminus. The main function of SURF1 is to encode a factor involved in the biogenesis of the cytochrome c oxidase complex (Zhu et al.

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

Today, there are many different kinds of mitochondrial DNA mutations. These mutations can vary in severity, and the consequences that result from the mutation. But how did these mutations arise? And how do they affect those afflicted with the mutation? In order to properly understand human mitochondrial DNA mutations, we must begin with the early stages of human life.

Every 30 minutes, a child with a high possibility to develop mitochondrial disease is born. Mitochondrial diseases are reaching the frequencies of childhood cancer; however, most cases go undiscovered because this disease is extremely difficult to diagnose. Mitochondrial diseases affect the “powerhouse” of a cell. The mitochondria is the organelle within a cell that is responsible for generating 90% of the energy that the cell needs to sustain life and support growth. Such diseases can lead to major complications in the human body. A team of researchers at Newcastle University have recently developed a revolutionary genetic test using next generation sequencing. Unlike in past years, diagnoses of mitochondrial disorders are processed and

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

Mitochondria provide the energy used within our cell to carry the vast variety of actives that is fundamental life (). Without the huge input of ATP derived from the mitochondria, the

Mitochondrial diseases are not the only diseases that can be inherited from parents. There are diseases, disorders, syndromes, etc, such as SCIDS (Severe Combined Immune Deficiency Syndrome), Hemophilia, Tay-Sachs disease, and many more. For a majority of the diseases, an individual must inherit two recessive alleles in order for that disease trait to be expressed. Both people in a couple can get tested to see if they are a carrier for the disease. A problem can soon arise if both individuals are carriers of a severe disease that can be fatal or detrimental to the baby’s health because the baby will have fifty percent chance of being homozygous recessive for the disease and a fifty chance of being homozygous dominant for the disease, but

Mitochondria are organelles that are considered the “power generators” within the cell. Mitochondria convert oxygen and nutrients into adenosine triphosphate (ATP), which is the energy that the cell uses. The energy is produced from the breakdown of glucose. Along with creating energy for the cell, the mitochondria also help certain cells self-destruct after they have served their purpose or if they are damaged. In the article “In cleaning up misfolded proteins, cell powerhouses can break down" by Science Daily, researchers at John Hopkins discovered that mitochondria can dispose of unwanted protein clumps. Many of the protein clumps in their experiment broke down in the cell's mitochondria. The experiment revealed that too many misfolded

In pancreas cells, the mtDNA depletion can contribute to the age-related decline in insulin secretory capacity in man [55]. Also, the immunoreactivities of many mitochondrial enzymes, such as cytochrome oxidase, an important enzyme located on the inner mitochondrial membrane and a component of aerobic metabolism, respiratory chain and ATP synthetase complex, decrease when the age-related mitochondrial bioenergetics happens [42]. The extent of decrease or loss of this enzyme represents the loss of bioenergetic capacity [48]. As it was mentioned before, these age-related mitochondrial defects can all be detected by histochemical staining of MTCO1, which is an important biomarkers of mitochondrial function. Besides, the oxidative damage can trigger the release of intermembrane space proteins, such as cytochrome c (cyt c) into the cytosol and opening of the permeability of transition pore, causing a cascade of cell apoptosis [53,

Mitochondrial are dynamic organelles that are involved in a number of functions essential for the maintenance of cellular homeostasis. To maintain the energetic state of the cell mitochondria maintains a subtle balance between fission and fusion to regulate mitochondrial number, mitochondrial shape, and network as unbalanced fission and fusion can have deleterious impact on cellular metabolism, energy status and redox homeostasis. Further, mitochondrial and neuronal activities are closely integrated to one another as injuries in mitochondria compromises neuronal function and survival. Mitochondrial dynamics impacts mitochondrial genome integrity, bioenergetics and neuronal functions including synaptic maintenance

The body’s cells use a special form of energy called adenosine triphosphate (ATP) to power almost all their activities, such as muscle contraction and protein construction. Every cell has a small store of highly charged ATP which is located in the cytoplasm. ATP is made up of adenosine and three inorganic phosphate (Pi) groups which are bonded together in a sequence. Each of the phosphate bonds stores the energy in which the cell can use. The bond between the second and third phosphate groups contains the most accessible energy. Whenever an enzyme breaks off the third phosphate group from the second phosphate group the energy is released so the cell can use it. Usually when this happens the ATP becomes an energy deficient adenosine diphosphate

Cellular respiration is a procedure that most living life forms experience to make and get chemical energy in the form of adenosine triphosphate (ATP). The energy is synthesized in three separate phases of cellular respiration: glycolysis, citrus extract cycle, and the electron transport chain. Glycolysis and the citric acid cycle are both anaerobic pathways because they do not bother with oxygen to form energy. The electron transport chain however, is aerobic due to its use of oxidative phosphorylation. Oxidative phosphorylation is the procedure in which ATP particles are created with the help of oxygen atoms (Campbell, 2009, p. 93). During which, organic food molecules are oxidized to synthesize ATP used to drive the metabolic reactions necessary to maintain the organism’s physical integrity and to support all its activities (Campbell, 2009, pp. 102-103).