16. After prolonged activity, there’s an accumulation of lactic acid & depletion of ATP, ion…
Regulation: Phosphorylation of amino acid with –OH ( or thr or ser or tyr) leads to activation of protein kinase in a signal…
5. Creatine Kinase is an enzyme found in skeletal muscle. It is also responsible for transferring phosphate groups to creatine and ADP. In James case the reason why his levels elevated was due to the disease Duchenne dystrophy which destroys the cell membranes and allows Creatine Kinase to flow within the bloodstream. This results in the elevation of enzyme level.…
1. What acid-base imbalance is Kirsten experiencing, and how is this affecting her ability to compensate?…
| Quest#7 | | Which of the following enzymes is deficient in humans suffering from phenylketouria (PKU)? | | | Student Response | Value | Correct Answer | Feedback | A. | Cystathionine synthase. | | | | B. | Tyrosinase. | | | | C. | Branched chain alpha-ketoacid dehydrogenase.…
Because of this Patrick either loses the ability of that enzyme to catalyze its substrate or the loss of ability to regulate that one enzyme to cause his disorder. Patrick was unable to move therefore that goes back to synthesizing the muscle movement. If the muscles can’t properly work with one another then you have a shortage of muscles. The movement that takes place requires energy that comes from the cells storing energy in many ways. Patrick’s body is unable to store energy which is why he isn’t able to move or function properly causing him to become paralyzed. Therefore, Patrick cannot store protein that helps him to move which show that the catalysis is malfunctioning because the proteins aren’t being broken down to be stored. Patrick has already had blood done to show that the proteins aren’t being broken down or stored which is the cause of him being…
13. The hypophysectomized rat’s BMR was also not effected by the PTU, and the BMR in this case was also more than the normal rat’s BMR because of the fact that…
The lack of this enzyme leads to high levels of phenylalanine to accumulate due to phenylalanine being found in many naturally occurring and manufactured food products. Thus, if the enzyme is not present, this large consumption will cause toxic levels within the body. Typically if not treated before 3 weeks of age, these increased levels of phenylalanine can lead to irreversible intellectual disabilities such as mental retardation (Lyman,…
The nonmutated form of DMPK functions in the production of protein kinase serine; this enzyme plays a role in intracellular communication and in the regulation of myosin phosphate. When DMPK is mutated, the proteins CUG-BP1, MBNL1 and INSR are displaced causing the splicing of troponin pre-mRNA which causes malfunctions in the cardiac conduction system, dominance of a chloride channel that causes myotonia, dominance of an insulin receptor that affects the sufficiency of insulin, and dominance of a tau protein that alters cognitive function (Cho and Tapscott, 2006). In a study by Klesert, Otten, Bird, and Tapscott (1997), a northern blot analysis was done to determine the amounts of DMPK and DMAHP (DM-associated homeo domain protein) present…
In the early 1960s, researchers identified a fundamental defect that is a hallmark of the disease: the loss of brain cells that produce an important chemical, dopamine, which helps direct muscle activity. Progressive loss of dopamine-containing neurons is a feature of normal aging; however, most people do not lose the 70% to 80% of the dopaminergic neurons required to cause symptomatic PD. Without treatment, PD progresses over 5 to 10 years to a rigid, akinetic state in which patients are incapable of caring for themselves. Death may result from complications of immobility, such as aspiration pneumonia and pulmonary embolism.…
4. Mazurek, S., Boschek, C. B., Hugo, F., & Eigenbrodt, E. (2005, August). Pyruvate kinase type M2 and…
The condition is caused by a mutation in the HPRT gene, which encodes for the peptide hypoxanthine guanine phosphoribosyltransferase. This enzyme regulates the production of guanosine monophosphate and inosine monophosphate. It also serves in the recycling of purine nucleotides in the purine salvage pathway.…
Vitamin B12 is involved in the synthesis of methionine from homocysteine;methionine is necessary for the synthesis of myeline; B12 deficiency will explain the neurological manifestation, because of demyelination.…
The disease is more commonly found in people over 50 year old but it can also happen in younger patients. The typical symptoms are movement-related including shaking, rigidity, slowness of movement and difficulty with walking and gait accompanied by thinking, sensory, sleep and emotional problems. Its pathogenesis is characterized by the loss of dopamine signaling due to the progressive degeneration or death of dopamine-generating neuron cells in the region of midbrain and accumulation of a protein termed as Lewy bodies in neurons. The main affected brain areas in PD include basal ganglia and cerebral cortex. In addition to the aging, exposure to environmental factors such as pesticides has been identified to be a risk factor of…
Lesch Nyhan is associated with an almost complete absence of the enzyme HGPRTase (hypoxanthene guanine phosphoribosil transferase). This is the enzyme that recycles hypoxanthen and guanine, which are two of the genetic building blocks. When this enzyme is not present, the hypoxanthen and guanine are converted into excessive uric acid. Children around four to six months old are usually diagnosed with LND when orange, sand like uric acid crystals are observed in their diapers. These crystals cause painful urination, arthritis and kidney stones as they build up in various areas of the body.…