Amyloidosis Case Study

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Niemann: Pick's Disease Niemann Pick disease consists of a group of genetic disorders in which the common feature is a varying degree of sphingomyelin storage in certain tissues of the body. According to the current classification based on the enzymatic defect underlying these disorders, two main groups are distinguished. The first group, which comprises type A, which is characterized by a severe deficiency in acid sphingomyelinase activity, includes infantile neuronopathic form; and type B, an adult chronic form without neurologic symptoms. In the second heterogeneous group called type C, neuro-visceral involvement is massive and lipid metabolism is affected. The sphingomyelin that accumulates in the lysosomes of the Niemann-Pick disease cells is thought to arise from the degradation of cells and their organelles since it is a major component of all mammalian cell membranes, the myelin sheath and the erythrocyte stroma.

This could relentlessly strain health-care systems because the Disease is so persistent, disabling, and costly. Based on postmortem examinations of remaining brain tissues in Alzheimer’s patients, Amyloid plaques, and neurofibrillary tangles are the two main characteristics involved with Alzheimer’s disease. (5) Amyloid-B is a protein that accumulates on the inside and outside of neurons. High levels of amyloid proteins damage axons and dendrites. (3) These damaged axons and dendrites cluster into structures called amyloid plaques, which begin to form before any behavioral symptoms appear (3).

Polycystic Kidney Disease, also known as PKD, is a common inherited gene disorder that causes the growth of cysts in the tissues of both the kidneys. The kidneys are a major organ in the excretory system; they remove wastes from the blood and form of urine. They filter the blood, keeping it clean of all wastes and have a number of other functions as well. Due to the growth of cysts on the kidneys it makes it hard to carry out these functions and the will eventually cause the kidneys to fail. This paper will discuss what PKD is, the many symptoms and treatments of PKD, and recent developments in research of this disease.

However, these diseases can also include more subtle modifications and these tend to be rare. One example of this that is classified as a conformational disease is amyloidosis. Amyloidosis is classified as a conformation disease because it occurs in humans when substances called amyloid proteins build up in a person’s organs. This amyloid is an abnormal protein that is typically produced by cells in a person’s bone marrow. This abnormal protein can then be deposited in any tissue or organ (WebMD, 2012).

Protein glycosylation is one of the most common post-translational modifications, conferring a diverse set of functional properties. O-linked glycans can have important roles for immune-associated molecules; however the prominent glycans found on the MHC family are N-linked. Like other post-translational protein modifications, N-linked glycans are preferentially attached to a consensus protei... ... middle of paper ... ...ion. The repertoire of N-glycans found on MHC molecules and different antigen presenting cell types is a reflection of the differential usage of numerous glycosyltransferase and glycosidase enzymes, from which there are in excess of 200 in the mammalian genome (1). In addition, conditions of chronic inflammation such as cancer, rheumatoid arthritis, and inflammatory bowel disease can further influence glycan structure by modifying enzyme expression, availability of carbohydrate building blocks, and increased protein expression over the limits of the N-glycosylation secretory pathway.

Shock, sepsis, dehydration, severe blood loss, heart failure, preexisting artherosclerosis are some of the major causes of Pre Renal Failure. During this phase there will be elevated BUN and Creatine. There will be a decrease in the Ur NA<20, and typically there won’t be trace proteinuria and the GFR will be decreased. Intra Renal Failure is characterized as injury involving both kidneys. The cause of Intra Renal Failure can be vascular related; glomerulonephritis, renal artery obstruction, anemia, thrombocytopenia.

It leads to apoptosis in the macrophages by initiating the UPR through a variety of mechanisms. The UPR is something that is initiated only when there is undo ER-stress. The plaque formation and inflammation in arteries are the triggers that cue this stress in the ERs. Novel therapeutic treatments for the disorder are being developed through research that seeks to better understand the exact role of the CHOP proteins and the UPR in the progression of atherosclerosis.

The kidneys are impaired to an extent where fluid and electrolyte balance cannot be maintained. This occurs due to nephron injury. Nephrons are microscopic filtering units responsible for excreting metabolic wastes. In ESRD, the nephrons are replaced with scar tissue that is unable to perform operations needed and “all sense of homeostasis is lost”(Story, 2012). There are several causes of end-stage renal disease including diabetes mellitus, hypertension, and atherosclerosis.

Fibrillin is a major element of microfibrils, which store a protein called transforming growth factor beta (TGF-β), a critical growth factor. TGF-β helps control the proliferation of cells, cell differentiation, cell movement, and apoptosis. Microfibrils help regulate the availability of TGF-β, which is deactivated when stored in microfibrils and activated when released. The increase in TGF-β and abnormalities involving microfibrils causes problems in connective tissues throughout the body such as malformations and disfigurements of the ligaments, spinal dura, lens zonules, and lung airways(Marcheix, 2008). The heart is also greatly negatively impacted through a weakening of the aortic wall, progressive aortic dilatation or aortic disjointing can occur because of strain caused by left ventricular contractions.