LDLR: Low-Density Lipoprotein Receptor

They are released into the bloodstream to provide triglycerides in body tissues. High levels of VLDL is associated with the development of plaque deposits in the arterial wall (Lopez-Jimenez, 2015). Low density lipoproteins (LDL) is made by the liver to transport cholesterol. These may form deposits on walls of arteries and other blood vessels which may cause heart attack, stroke and formation of plaques in arterial body walls (webmd.com). As triglyceride is removed from VLDL, intermediate density lipoproteins (IDL) are formed. These intermediate density lipoprotein also promote plaque formation in the walls of arteries. All of the following types of lipoprotein mainly causes harmful effects if not monitored, however there is one good type of lipoprotein which is called high density lipoprotein. HDL collects phospholipids, cholesterol and triglycerides to be transported in the liver for it to be broken down (Smith, 2015). High concentrations of HDL correspond to healthy blood vessels and low risk of atherosclerosis, this is mainly the reason why it is called the “good cholesterol” (Kanakavalli et al.,

Heterozygous familial hypercholesterolemia current drug therapy statins, bile acid sequestrates, or other lipid lowering agents that lower cholesterol levels with relative success. Homozygous familial hypercholesterolemia (HoFH) is not treated well with standard lipid-lowering medications and needs costly methods to lower LDL-like apheresis or a liver transplant. HoFH occurs approximately 1 in 1 million births, creating a small population to gather data about treatments for this rare disease state. 1 Studies have shown that the best role of Juxtapid in familial hypercholesterolemia is as adjunctive therapy

Some of these factors are reported as heredity, environments, and dietary factors. Heredity plays an important part in determining who is likely to develop type 1 diabetes. Certain gene variants that carry instructions for making proteins called human leukocyte antigens (HLAs) on white blood cells are linked to the risk of developing type 1 diabetes. The proteins produced by HLA genes help determine whether the immune system recognizes a cell as part of the body or as foreign material (van Belle TL, Coppieters KT, von Herrath

What is the probable genetic causation of excessive cardiovascular disease in the Family pedigree presented? Are any lifestyle issues causing an exacerbation or alleviation of this disease?

A change in the LIPE gene alters HSL leading to insulin resistance and diabetes. This happens when there is a normal level of insulin that is unused by the body. The body

Type 2 Diabetes which is a direct cause of obesity is known to increase the chances of one developing CAD. Type 2 diabetes is correlated with high glucose levels due to insulin resistance. The hormone Insulin converts glucose into glycogen which is stored in the liver and is later used as fuel by the body. With insulin resistance, one’s body does not respond well to the hormone, so the body continues to produce more and more insulin without storing glucose as glycogen within the liver. This leads to an increased level of glucose in the bloodstream which can become an issue. Elevated glucose levels can lead to a decrease in the amount of HDL within the bloodstream leading to elevated levels of LDL within the bloodstream (Health line, 2015). The increase of LDL cholesterol within the bloodstream leads to the build-up of cholesterol within the coronary arteries

This gene instructs the body to make lecithin-cholesterol acyltransferase enzyme (LCAT enzyme) which has a function of removing cholesterol from body and tissues and carrying them to the liver by the help of lipoprotein molecules. The cholesterol molecules will then be redistributed to other body tissues or removed from body by the liver. The activity of LCAT enzymes which adds cholesterol molecules to high-density lipoprotein (HDL) is called Alpha-LCAT activity. When LCAT enzymes add cholesterol molecules to very low-density lipoprotein (VLDL) and low-density lipoprotein, the activity is called Beta-LCAT activity. The mutation in gene LCAT leads to the reducing of Alpha-LCAT activity in the LCAT enzyme. This results in body lacking cholesterol and cornea opacities cholesterol. There is so far no known reason why this mutation only causes cholesterol opacities in cornea (Fish-eye

Cholesterol is usually misunderstood in the general population. Cholesterol is not dangerous in itself but rather the accumulation of lipoproteins is the concern. Dietary lipids include triglycerides, phospholipids, cholesterol esters cholesteryl esters and fat-soluble vitamins. These nutrients require special types of biochemical machinery to facilitate their assimilation and distribution within the body. The biochemical apparatus used includes bile salts, apolipoproteins, serum albumin, and vitamin binding proteins. Lipoproteins are large enough to be called particles. A particle can be defines as a piece of matter that when suspended in fluid or gas it scatters light or appears cloudy (Brody, 1995). Lipoproteins are assembled in the small

Surprised? You make new cells throughout your body every day with cholesterol. But too much cholesterol is not good. There are different kinds of cholesterol. Low HDL-C, commonly known as "good cholesterol," high triglycerides that are dietary fats, and elevated apo B, an intermediary cholesterol, are all common in metabolic syndrome and is a sign of imbalance.

Studies have shown genetic component for both hypertension and abnormal blood lipids , factors related to the development of cardiovascular disease / which would lead to a heart disease.

Transformation heterogeneity of the LDLR causes phenotypic variety in FH Homozygotes. The seriousness of the homozygous illness can be classified by measure of functional LDLR activity. In the most extreme form, under 2% of ordinary receptor activity is identified in the patients cultured fibroblasts, coronary deaths are most continuous, and untreated patients hardly survive past the second decade of life (Goldstein et al.,2002). In FH heterozygotes patients. clinical articulation of coronary illness is affected by, other than the LDLR gene deformity, behavioral, ecological and hereditary elements (Jansen et al.,2002). Age, male sexual orientation, cigarette smoking, hypertension, western-sort diet, extreme maternal

I began to unravel the general cause of being born with HLHS. The specific cause of HLHS still remains a mystery; however, much process in genetic testing has shown results of changes in genes and chromosomes that effect the growth of babies and leads to defects. Although genetic testing is one reason for heart defects, genetic testing is not the specific reason that HLHS occurs in babies. Doctors have discovered that factors that effect babies can both be controlled and uncontrolled. Control factors include: consumption of alcohol and use of illegal drugs if mothers stop the use of drinking alcohol and do not use drugs she will decrease the chance of her baby being born with a heart defect. Environmental factors, genetic, and viral infections, such as German measles, are uncontrolled factors that can contribute to a baby being born with a heart defect. Scientists and doctors continue the search for what specificity causes HLHS. ("Congenital Heart Disease.",

Atherosclerosis is a chronic inflammatory disease characterized by infiltration of blood vessels by lipids and leukocytes. There is a growing body of evidence that among risk factors that promote atherosclerosis, the metabolic syndrome is a powerful and prevalent predictor of cardiovascular events. The systemic inflammatory process associated with the metabolic syndrome has numerous deleterious effects that promote plaque activation, which is responsible for clinical events. Interactions between the innate immune system with lipid?derived products seem to play a major role in the pathophysiology of atherosclerosis in relation with the metabolic syndrome. The multiple links among adipose tissue, the vascular wall, and the immune system are the

A mutation in the lipoprotein lipase gene causes this metabolic disorder and is inherited as a recessive trait. However, individuals who inherit a mutated gene and a normal gene (heterozygotes) are not at risk of the disorder. Interestingly, lipoprotein lipase deficiency is more prominent in Quebec, Canada, which is caused by a founder effect, where few individuals spawn a large population. In effect, lipoprotein deficiency causes improper fat digestion and accumulation of chylomicrons and triglycerides in the plasma, the fluid that suspends blood cells. When clogging occurs, the afflicted are at risk of atherosclerosis, as described in Figure 4. This clogging of the bloodstream can cause heart attack and stroke. It can also lead to acute pancreatitis, the inflammation of the pancreas and can extend to pancreatic insufficiency, the inability to digest food, as well as diabetes. Symptoms of lipoprotein lipase deficiency can be many; such conditions include abdominal pain, nausea, vomiting, loss of appetite, pale retinas and yellowing of eyes and skin (fatty deposits). In extremities, infants may fail to thrive with the disease. Lastly, treatment of lipoprotein lipase deficiency can be approached through low-fat diets, lipid powering drugs, and gene therapy. These treatments attempt to reduce pancreatitis attacks and cardiovascular diseases through nutrition-based therapy, allowing the body reduce its triglyceride concentrations. Further analysis of the structure and function of lipoprotein lipase will allow for improved treatments and

This disorder is inherited as an autosomal recessive trait and is caused by mutations in the microsomal triglyceride transfer protein (MTTP) gene. Beta-lipoprotein that work to carry fats and cholesterol in the blood is missing due to the MTTP gene mutations. The MTTP gene provides instructions for making microsomal triglyceride transfer protein, which is essential for creating beta-lipoproteins. The mutations in this gene lead to abnormally short microsomal triglyceride transfer protein, causing the nutritional and neurological problems. ABL is also called Bassen-Kornzweig syndrome because Dr. Bassen and Dr.