Mcardle’s Disease is a type of glycogen storage disease (also known as glycogenosis or dextrinosis). Glycogen storage disease is the consequence of the deformity of the human body to synthesize glycogen in the liver, or to break glycogen down within the liver and muscles. There are two main types of glycogen storage disease one is genetic GSD (or congenital metabolic disease), which is caused by the defect of genes that do not code the enzymes needed for the synthesis or the conversion of the…
release of GTP-bound α subunit. This increases the cytosolic levels of cAMP which then activates protein kinase A. This successively phosphorylates glycogen phosphorylase b stored in the cell, as phosphorylase kinase is initiated. Phosphorylation of glycogen phosphorylase b converts to phosphorylase a. This enzyme releases glucose-1-phosphate from glycogen polymers. After this the phosphate group is moved from the C-1 position to the C-6 position creating glucose-6-phosphate by the enzyme,…
thirty to ninety percent of a riders max power will utilize the glycolytic energy system. The glycolytic system is dependent entirely on the presence of glucose in the body. The most abundant form of glucose in the body is its storage form of glycogen. Glycogen is stored both in the liver and directly in muscle tissue. The body’s external source of glucose comes from the consumption…
Anderson & Rawson (2013), carbohydrate loading (carb loading) which is sometimes also called “glycogen loading and glycogen supercompensation, is a dietary technique designed to promote a significant increase in the glycogen content in both the liver and the muscles in an attempt to delay the onset of fatigue” (p.149). The “classic carb loading” technique was a three stage process that consisted of: 1. Glycogen depletion stage which the athlete would engage in high intensity exercise. 2.…
Laforin is a 331 amino acid protein with a carbohydrate-binding domain (CBD) at its amino terminus. This CBD allows the protein to bind to glycogen and Lafora bodies, with preference given to the latter. Recent studies suggest that the binding of the CBD of laforin to Lafora bodies may be involved in the regulation of aberrant glycogen (Gentry et al., 2005). Upon recognizing a Lafora body, laforin directs a negative feedback pathway to inhibit the accumulation of Lafora bodies by either…
different sample solutions. The tests were the iodine test, Benedict’s test, and the biuret test. To begin, the iodine test was used to identify which solutions contained glycogen or starch. If the solution tested negative, it stayed the yellow colour of the iodine solution. Whereas, if the solution tested positive for glycogen it turned a red-brown colour (Morris, 1946). Additionally, the solution turned a blue-black colour if the iodine reacts starch (Bailey & Whelan, 1961). For this test,…
Case 3 Sequence 2: Laforin Isoform X4 (EPM2A) Lafora progressive myoclonus epilepsy is a brain disorder which results in frequent seizures along with a degeneration of intellectual function (“What is Lafora,” 2009). This is the worst teenage-onset progressive epilepsy. Progressive epilepsy means a condition that affects the central nervous system and grows increasingly worse over time (“Progressive Myoclonus Epilepsy”). The gene EPM2A, which provides instructions for creating the protein…
limit (Flatt, 1995). Glucose and carbohydrates are more readily available, but they are not good to rely on for a primary source of energy. Fat tissue has a greater amount of energy per gram that is stored, and fat tissue takes up less space than glycogen. References: Flatt J. Use and storage of carbohydrate and fat. The American Journal Of Clinical Nutrition [serial online]. April 1995;61(4 Suppl):952S-959S. Available from: MEDLINE Complete, Ipswich, MA. Accessed December 24,…
the duration and type of activity, with glycogen being the main source of fuel used by the muscles to enable an athlete to undertake both aerobic and anaerobic exercise. To support an athletes training sessions or at the final circle ball festival, they need to eat an appropriate time so that all the food has been absorbed and the athletes’ glycogen stores are fully replenished. Mackenzie (1997) states that following training and competing, an athletes glycogen stores are depleted. In order to…
the Cori cycle is a link for gluconeogenesis with anaerobic glycolysis, using different tissues to compartmentalize opposing metabolic pathways. Uridine diphosphate (UDP) glucose is a nucleotide sugar used in many pathways. It is the precursor for glycogen and sucrose. It can also be used as enzymes to breakdown reactions. These enzymes are called UDP glucose pyrophosphorylase and UDP glucose dehydrogenase. The pathway that…