Diseases defined by the abnormal metabolism of hemoglobin are classified as porphyrias. Porphyrias cause an abnormal buildup of porphyrin ring compounds that are essential for proper function on hemoglobin. There are multiple different classifications of porphyria, with acute intermittent porphyria being the most common. Porphyrins, the building blocks of hemoglobin, are excreted in the urine of affected people, causing extreme symptoms that range from pain to neurologic disturbances. While there are ways to treat symptoms and methods to avoid frequent attacks, there is no cure do to the foundation of the disease beginning at the genomic level.…
4. The four proteases we used are, chymotrypsinogen, trypsinogen, procarboxypeptidase, and pepsinogen. The name of zymogens for each protease in order is chymotrypsin, trypsin, carboxypeptidase, and pepsin. Chymotrypsin and trypsin are activated by enteropeptidase.…
Alpha 1-Antitrypsin Deficiency Alpha-1 antitrypsin deficiency is caused by mutations in the serpina1 gene on chromosome 14. The serpina1 gene codes for the Alpha-1 antitrypsin (AAT) enzyme which is a protein that protects the lungs, and is made in the liver. This deficiency occurs when there is a lack of a protein in the blood called alpha-1 antitrypsin. Without the protection of this protein, the lungs are more sepetable to be attacked by neutrophil elastase. Neutrophil elastase is an enzyme that is made by white blood cells and it fights infections.…
Goodpasture’s Syndrome, also known as Goodpasture’s Disease, antiglomerular basement antibody disease, or anti-GBM disease is an autoimmune disease affecting the lungs and kidneys. In this rare disease antibodies are formed that attack the collagen in the lungs and kidneys leading to kidney failure and bleeding in the lungs. The laboratory plays an important role in the diagnostic process of Goodpasture’s disease. Patients will experience edema, joint pain, changes of urine color, and electrolyte imbalances in the blood. Goodpasture’s Disease is treatable with steroids, different blood products, immunosuppressants, and has a good prognosis if diagnosed early.…
What is Lipitor? Lipitor is a brand name for drug atorvastatin, which is a newer selective and competitive inhibitor of 3-hydroxy-3-methylglutaryl-coenzyme (HMG-CoA) reductase that belongs to a group of drugs known as statins. Atorvastatin was synthesized in 1985 and its development was mostly based on molecular comparisons of fungal metabolites and other synthetic inhibitors. Atorvastatin is approved for the reduction of elevated total cholesterol, LDL cholesterol, apo B and triglyceride levels, but its usage also leads to an increase of HDL cholesterol in individuals with primary hypercholesterolemia and mixed dyslipidemia.…
According to T.F. Gendron et al., partial amounts of the toxicity are due to a gain in function by the protein. When this occurs, the TDP-43 protein has usually shifted its location from the nucleus to throughout the cytoplasm of the cell. This abnormal accumulation of TDP-43 in the cytoplasm is not only found in neurons and glial cells of the primary motor cortex but as well as in brainstem motor nuclei, the spinal cord, and in certain associated white matter tracts (Mackenzie et al 2010). It is at this point that TDP-43 becomes phosphorylated and the C-terminus cleaved resulting in the truncation of the protein (T.F. Gendron et al. 2010; Mackenzie et al 2010). When this occurs, a buildup of the protein C-terminals along with “granules” potentially…
throughout life, their aggregates gradually accumulate as we age. These aggregates form distinct and observable structures in the brain which generally known as amyloid deposits in the brain. Furthermore, some form of mutation increase the chance of misfolding in proteins which is the case in the genetic or familial case of NDs [22]. Though the mechanism is not clear, it has been proven that deposits of misfolded proteins are known to be neurotoxic and able to cause apoptosis in neuronal cells.…
L-Biopterin is the oxidized form of tetrahydrobiopterin (BH4) [1]. Tetrahydrobiopterin (BH4) has been also known as sapropterin. BH4 is an essential cofactor of the three aromatic amino acid hydroxylase enzymes which has used in the degradation of amino acid phenylalanine and in the biosynthesis of the neurotransmitters serotonin (5-HT), melatonin, norepinephrine, dopamine, epinephrine (adrenaline). BH4 is a cofactor of nitric oxide synthases [2].…
Avidin-Biotin Interaction that is unfavorable in the human body Avidin is known to be resistant to pancreatic proteases, therefore there is no absorption of Avidin in the body. Similarly, the binding of Avidin from food sources to dietary Biotin causes no absorption of Avidin-Biotin complex into the body. Biotin will then be carried through the gastrointestinal tract. [2] Decreased Biotin absorption due to Avidin binding leads to Biotin Deficiencies.…
RESEARCH STRATEGY (a) Significance. Yersinia pestis ( Yp) is a Gram-negative bacterial pathogen that is the causative agent of plague. Yp is a Category A agent defined by the National Institute of Allergy and Infectious Diseases (NIAID) as a pathogen that is high risk to public health and national security.…
I potentially could be at risk for COPD, due to an Alpha- 1 antitrypsin deficiency, which my grandma may have had as well and may or may not have passed it down to me (she most likely did not have this deficiency, but you never know). Because of this potential, I want to focus on healthier habits, which my goals will explain. According to Köhnlein and Welte in Alpha-1 Antitrypsin Deficiency: Pathogenesis, Clinical Presentation, Diagnosis, and Treatment (2008), alpha- 1 antitrypsin deficiency is not a rare disease, but is one that is often underdiagnosed. Normally our lungs are protected by antiproteases because our lungs are exposed to airborne pathogens and hazardous substances. One of these antiproteases is alpha- 1 antitrypsin – which normally is at a high concentration in the lungs.…
The Mevalonate pathway, also known as the Isoprenoid pathway or HMG-CoA reductase pathway is an essential metabolic pathway present in eukaryotes, archaea, and some bacteria.[1] The pathway produces two five-carbon building blocks called isopentenyl pyrophosphate (IPP) and dimethyl allyl pyrophosphate (DMAPP), which are used to make isoprenoids, a diverse class of over 30,000 biomolecules such as cholesterol, heme, vitamin K, coenzyme Q10, and all steroid hormones.[2] The mevalonate pathway begins with acetyl-CoA and ends with the production of IPP and DMAPP.[3] It is best known as the target of statins, a class of cholesterol lowering drugs. The drug Lipitor (Atorvastatin) inhibits HMG-CoA reductase within the mevalonate pathway.…
New England Journal of Medicine, 33(3), 211-214. Retrieved from…
2.9.2.1. Coagulation Inhibitors Protein C plays crucial role in controlling anticoagulation and is a vitamin K-dependent serine protease (zymogen). Protein S (a vitamin K- dependent glycoprotein) acts as a cofactor for APC (activated protein C) [133]. Protein C and S slow the coagulation cascade with inactivating coagulation factors such as factor Va and VIIIa.…
Through this experiment we measured how fast a chemical reaction occurs, by changing the degradation rate in Albumin when added to different enzymes. Albumin is a protein found in egg white, which is considered to have important storage and nutritional functions. Albumin has also been used in medicine to treat heavy metal intoxication. We ran Albumin through four different conditions to see which would make the Albumin degrade faster. We predicted that the Albumin would degrade with pepsin the fastest since it is essential for digestion of substances in the stomach.…