In a single cell there are large numbers of organelles known as mitochondria. These organelles are spherical with a double-membrane, the outer mitochondrial membrane and the inner mitochondrial membrane (Chial). The majority of energy and power for the body’s cells, more than 90% of what is required to preserve life and encourage growth, originates from these organelles in the form of the molecule adenosine triphosphate (Kurt 11; “What”). This energy production process is termed oxidative phosphorylation because it occurs in the presence of oxygen (Sirrs). If there is a fault in this assembling of energy within the mitochondria, it is known as a mitochondrial disease. Usually the organs affected by these diseases are those that require larger amounts of energy, such as the heart, brain, muscle, and liver (Kurt 11). When this process of mitochondrial disease occurs throughout the body, it can effect entire body systems and lead to possible death (“What”). However, adenosine triphosphate production is only one function of the mitochondria. Most of the roles of mitochondria depend upon the location of the cell in which they occupy and the cell’s functions. As a human develops from fetus to adult the functions of these mitochondria change and develop as well. Most of these jobs of the mitochondria are majorly engaged in anabolism “molecular building blocks” and catabolism of fats, proteins, carbohydrates, and etcetera. For example, cells cannot even form RNA and DNA without the help of mitochondria because they require purines and pyrimidines formed within the organelle. Also, mitochondria withhold the “rate-limiting enzymes” needed for pyrimidine biosynthesis and heme synthesis necessary in hemoglobin production. Some other disting...
... middle of paper ...
...G, Yolanda Lillquist, MD, FRCPC. "Mitochondrial Disease Clinical Manifestations: An Overview." British Columbia Medical Journal 53.4 (2011): 183-87. BC Medical Journal. Web. 18 Apr. 2014. .
Sirrs, Sandra, MD, FRCPC, Margaret O'Riley, RN, MA, Lorne Clark, MDCM, FRCPC,
FCCMG, and Andre Mattman, MD, FRCPC. "Primer on Mitochondrial Disease: Biochemistry, Genetics, and Epidemiology." British Columbia Medical Journal 53.4 (2011): 172-76. BC Medical Journal. Web. 18 Apr. 2014. .
"What Is Mitochondrial Disease?" What Is Mitochondrial Disease. United Mitochondrial
Disease Foundation, n.d. Web. 19 Apr. 2014. .
Faries, D. E., Houston, J. P., Sulcs, E. N., & Swindle, R. W. (2012). A cross-validation of the provisional diagnostic instrument (PDI-4). BioMed Central, 13(1), 104. doi:10.1186/1471-2296-13-104
In 1993 a consortium of researchers who worked on the DNA samples from families in the Lake Maracaibo region of Venezuela, an area with a high density of HD and significant consanguinity, reported the successful discovery of the gene responsible for the occurrence of this disease, present in chromosome 4 and named it as IT15 (Interesting transcript #15). IT15 later called as the Huntingtin gene (HTT) [2]. HTT is ~10 kilobases (kb) long and translated into a protein of 3144 amino acids with anticipated molecular mass of 348 kDa. Huntigtin protein is expressed in in human and all mammalian cells, where brain and testis has the highest concentration; liver...
Because the body, namely the “brain, heart, liver, kidneys, pancreas, and skeletal muscle, demand a finely tuned capacity for energy and lots of it, these tissues possess more mitochondria” (parkridge). When the mitochondria are not properly functioning for these organs, cell damage can occur.
On admission, a complete physical assessment was performed along with a blood and metabolic panel. The assessment revealed many positive and negative findings. J.P. was positive for dyspnea and a productive cough. She also was positive for dysuria and hematuria, but negative for flank pain. After close examination of her integumentary and musculoskeletal system, the examiner discovered a shiny firm shin on the right lower extremity with +2 edema complemented by severe pain. A set of baseline vitals were also performed revealing a blood pressure of 124/80, pulse of 87 beats per minute, oxygen saturation of 99%, temperature of 97.3 degrees Fahrenheit, and respiration of 12 breaths per minute. The blood and metabolic panel exposed several abnormal labs. A red blood cell count of 3.99, white blood cell count of 22.5, hemoglobin of 10.9, hematocrit of 33.7%, sodium level of 13, potassium level of 3.1, carbon dioxide level of 10, creatinine level of 3.24, glucose level of 200, and a BUN level of 33 were the abnormal labs.
2. "Rett syndrome." Holly A. Ishmael, MS, CGC. The Gale Encyclopedia of Genetic Disorders. Ed. Laurie Fundukian. 3rd ed. Detroit: Gale, 2010. 2 vols.
Three steps can explain cellular respiration: glycolysis, the TCA cycle (or citric acid cycle or Krebs cycle), and oxidative phosphorylation. Glycolysis is divided into two different stages: energy investment and energy payoff. During glycolysis, “ATP is both required and released at different stages” (Jordan & North 2013). The result is a net gain of two ATP, two NADH, and the production of two pyruvates. This process takes place in the cytoplasm. The pyruvates then go through the plasma membrane and into the mitochondrial matrix. During this pyruvate processing, NADH and CO2 are released and the pyruvates are converted into acetyl CoA. The acetyl CoA then goes through the TCA cycle, producing ATP, NADH, FADH2, and CO2. Finally, NADH and FADH2 go through the electron transport cha...
Due to having another disorder diagnosing someone with Cotard’s Sundrome can be quite tricky. A CT, or Computed Tomography, can be used to di...
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).
The mitochondria produces food for the cell by converting energy the cell needs. The mitochondria and the nucleus are two organelles within a cell that have many of the same similarities. Both organelles are made of two membranes. These layers isolate within the organelle all things considered, yet have protein channels that permit things to go in and out. Both contain DNA material that conveys qualities that encode for proteins. Both have qualities that make ribosomes, the machines that read the guidelines in RNA to make
U.S. National Library of Medicine, 26 Sept. 2011. Web. The Web. The Web. 19 Nov. 2013.
The mitochondria is an organelle which is generally an oval shape and is found inside the cytoplasm and is again apart of the eukaryotic cells. The main function of the mitochondria is to complete cellular respiration; in simple terms it acts like a digestive system to break down essential nutrients and to convert it into energy. This energy is usually found to in ATP which is a rich molecule taken from the energy stored in food. Furthermore, mitochondria stores calcium for signalling activities; such as heat, growth and death. They have two unique membranes and mitochondria isn’t found in human cells like the red blood cells yet liver and muscle cells are filled entirely with mitochondria.
... Medicine. 3rd ed. Vol.3. Detroit: Gale, 2006.2139-2141. Gale Virtual Reference Library. Web. 3 Apr. 2014.
Mitochondria are organelles in cells that provide energy, and they have their own DNA. Sometimes, mitochondrial DNA has mutations in it, causing rare, deadly, and incurable diseases. Women who have defective mitochondria can pass these diseases onto their children, but mitochondrial replacement therapy allows these women to have healthy babies that are free from mitochondrial disease. Mitochondrial replacement therapy is helpful and useful for women with defective mitochondria who want to, or are attempting to, have children. The therapy is designed to prevent faulty mitochondrial DNA from being passed down because it causes deadly diseases that often have no cure.
... urea cycle. So if mitochondria do not function properly, not only energy production but also cell-specific products needed for normal cell functioning will also be affected [Hardin et al. 2012]. There are three more important aspects of mitochondrial which are: (i) energy production, (ii) generation of reactive oxygen species (ROS), and (iii) regulation of programmed cell death, or apoptosis [Wallace, D. C. 1999].
Ed. David Zieve. U.S. National Library of Medicine, 26 Feb. 2014. Web. The Web.