The genetic disorder known as Pompe disease, or GSD II (glycogen storage disorder II), is a lysosomal storage disorder that causes those affected to incur muscle weakness, heart abnormalities, and respiratory problems, but may also affect other parts of the body. Pompe disease is an autosomal recessive genetic disorder caused by a mutation on the GAA gene located on the long arm of chromosome 17. This mutation leads to the inadequate or absent production of the GAA, or acid alpha-glucosidase, enzyme which retains the function of breaking down and storing glycogen. Because glycogen is usually broken down into glucose, which provides a suitable amount of energy for most cells, the insufficiency or absence of this process is what leads to organ
Tay-Sachs disease is a form of these lysosomal storage diseases. It is scientifically known as GM2 gangliosidosis: Hexosaminidase alpha-subunit deficiency. Three polypeptides encoded by three separate locations on the chromosome are needed for the catabolism of GM2 gangliosides. When these genes are mutated, the result is a buildup of the glycosphingolipid GM2 gangliosides. Over 50 mutations have been identified. Tay-Sachs disease is the most common form of gangliosidosis and results from a mutation of the alpha-subunit location on chromosome 15. This causes a severe dysfunction in the enzyme hexosaminidase A.
While the Type I Gaucher Disease is non-neuronopathic (not affecting the nervous system) the second two types are neuronopathic. Yet even though the three types of Gaucher produce different symptoms, all three types result from the same cause: a lack of glucocerebrosidase enzyme. The glucocerebrosidase enzyme functions to break down the compound glucocerebroside, a fatty compound which usually is stored in all cells of the body in very small amounts. In Gaucher patients, an excess of glucocerebroside builds up in the body, and is stored abnormally in lysosome, or storage cells (3) . Typically, macrophages are able to aid in the degradation process of glucocerebroside. However, due to the lack of glucocerebrosidase in Gaucher patients, glucocerebroside stays in the lysosome, preventing macrophages from acting upon them. Macrophages which are enlarged and contain an abnormal buildup of...
Glycation is a natural chemical reaction in the body that involves combining sugar molecules to protein molecules without the help of enzymes. In contrast to similar a chemical reaction that involves enzyme-directed processes called glycosylation, glycation disrupts normal metabolic pathways. This results in the production of advanced glycation end products (AGEs), which are assocated with oxidative damage that leads to pathological changes in various organ systems.
Every one in two thousand people are diagnosed with hereditary spherocytosis. This rare blood disorder is of the Northern European ancestry. The prevalence of hereditary spherocytosis in people of other ethnic backgrounds is unknown (Government). This disease should be detected in early childhood, but in some rare cases it can go undetected for years or never be detected at all. Hereditary spherocytosis not only affects the red blood cells but the spleen as well. It only takes one abnormal gene for a child to have the disease for the rest of his or her life. The disease is a reoccurring cycle, and this rare blood disorder is rare to the minds that do not have the disease, and to the minds that have not studied the disease. Although there is no definite cure a splenectomy will help maintain the disease. The million dollar question is “What is hereditary spherocytosis and is there a cure?”
Paget’s disease (PD), also known as osteitis deformans, is considered to be an osteometabolic disorder. It can be described as a focal disorder of accelerated and disorganized skeletal remodeling that may affect multiple bones in the body, giving rise to progressive enlargement and deformity of the bones and joints.1 PD is prevalent across both the sexes with incidence ranging from 1.5% to 8%.2 It is more common in individuals over 50 years of age.
Even though I knew my grandmother for 17 years before she died my mother told me that I had never met her. According to her my grandmother had not been "herself" for years because the affects of her advanced age had basically destroyed the person she once was and turner her into a living zombie. Although humans live an average of 85 years, things such as memory loss and lack of motor control can completely change a person and in a way kill her years before she dies. Vascular Dementia has the same general symptoms as "old age" only it typically occurs in younger people. Binswanger's Disease is a specific type of vascular dementia, probably the most common form, which affects people at approximately age 60. Most people diagnosed with this disease do not live past five years of its onset(1). Currently, not much is known about Binswanger's Disease; in many ways it resembles various other neurological disorders making it difficult to diagnose. The trademark of this disease is damage to the blood vessels in the deep white matter of the brain(1),(4),(5). The pons, basal ganglia, and thalamus are typical sites for these lesions(5),(7). A Magnetic Resonance Imaging scan is one of the most reliable ways to see this damage(5),(6). However, with outward symptoms such as depression, strokes, and disease of heart valves(1),(2),(3),(5) an MRI is not typically one of the first diagnostic tool used and the disease proceeds unchecked.
Pick's disease is a form of dementia characterized by a progressive and irreversible deterioration of social skills and changes in personality, along with impairment of intellect, memory, and language. In 1892 Arnold Pick, a German neurologist studied a patient who in his life had dementia and lost of speech. When the patient died, his brain shrunk, with the brain cells having died (atrophied) in the specific areas of the brain. In Pick’s disease, the frontal and temporal lobes of the brain are most affected. Changes occur in the cerebral cortex (which is how the frontal lobe is affected.) Pick's disease affects the temporal lobes of the brain in 25%, frontal lobes in 25% and both frontal and temporal lobes in 50% of cases (1). Damage to the frontal lobes leads to alterations in personality and behavior, changes in the way a person feels and expresses emotion, and loss of judgment. On a microscopic level, there is severe neuron damage in the cerebral cortex. The brain cells in these areas are found to be abnormal and swollen. These abnormal cells define Pick’s disease and are called Pick’s cells. Pick’s disease is often confused with Alzheimer’s disease where the degeneration generally affects mostly the temporal and the parietal lobes of the brain (2). When such typical cells are not seen on post-mortem examination but the same areas of the brain are affected by cell death the case may be described as Pick's syndrome (3).
Marfan syndrome is a primarily an autosomal dominant disorder that affects 1 in 5000 people worldwide. Marfan syndrome is connective tissue disorder that results in a mutation in the Fibrillin 1 gene. The life expectancy of an individual with Marfan syndrome is close to normal with early detection, but Marfan syndrome still remains underestimated due in large part to characteristics similarities that are common in general public. This is compounded by the 25 percent of individuals with a new gene mutation on Fibrillin 1. It is imperative that nurses have a greater understanding of Marfan syndrome in order to facilitate a genetic referral for an early and accurate Marfan syndrome diagnosis. This should include the mechanism of how this genetic mutation manifests thought out the body, the presenting symptoms, the risk factors, treatment, and education needs of the patient.
In order for the body to maintain homeostatic levels of energy, blood glucose regulation is essential. Glucose is one of the body’s principal fuels. It is an energy-rich monosaccharide sugar that is broken down in our cells to produce adenosine triphosphate. In the small intestine, glucose is absorbed into the blood and travels to the liver via the hepatic portal vein. The hepatocytes absorb much of the glucose and convert it into glycogen, an insoluble polymer of glucose. Glycogen, which is stored in the liver and skeletal muscles, can easily be reconverted into glucose when blood-glucose levels fall. All of the body’s cells need to make energy but most can use other fuels such as lipids. Neurons; however, rely almost exclusively on glucose for their energy. This is why the maintenance of blood-glucose levels is essential for the proper functioning of the nervous system.
A disease that results from a change to an individual's DNA is classified as a genetic disorder. The change can be very small such as a single mutation in a particular gene or complex like the addition or removal of a complete chromosome. An instance of a genetic disorder that affects a particular gene is Marfan syndrome. Marfan syndrome is an inherited disorder which alters the connective tissue in the body (Frey R, Sims J, 2010). Individuals with this disorder are affected in multiple areas because connective tissue is present all through the body. It is common for affected individuals to show irregularities in their eyes, circulatory system, skin, lungs, and musculoskeletal system (Frey R, Lutwick L, 2009).
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare genetic disorder with the main characteristic being that the bones break very easily, usually for no apparent reason. The major cause of osteogenesis imperfecta is a mutation in the genes that produce collagen. Collagen is the main protein that works toward the production of connective tissue. Individuals with this disorder will produce less collagen than needed, which causes the bone development to be endangered. This could result in bone deformities. There are four types of osteogenesis imperfecta, and in all four types you will see bone fragility with multiple fractures and bone deformities.
A deletion of genetic material in the part of the X chromosome called Xp22 causes microphthalmia with linear skin defects syndrome. This region has a gene called HCCS, which carries instructions for producing an enzyme called holocytochrome c-type synthase. This enzyme helps produce a molecule called cytochrome c. Cytochrome c is involved in oxidative phosphorylation. That is when mitochondria create adenosine triphosphate (ATP), the cell's energy source. It also contributes to apoptosis. A deletion of genetic material that includes the HCCS gene prevents the production of the holocytochrome c-type synthase enzyme. Since females have two X chromosomes, some cells produce a normal amount of the enzyme and other cells produce none. The resulting
For instance, the muscle degenerative disease sarcopenia or muscular dystrophy could be benefited from the inhabitation of this gene (Lee 2004). In the two studies conducted in regards to this topic when this gene was suppressed there was also evidence of a decrease in fibrosis, which leads to promising hopes for regeneration of some degenerative diseases (Lee 2004). However, there are still many doubts and uncertainties surrounding these experiments (Lee 2004).
“Diabetes mellitus (sometimes called "sugar diabetes") is a condition that occurs when the body can't use glucose (a type of sugar) normally. Glucose is the main source of energy for the body's cells. The levels of glucose in the blood are controlled by a hormone called insulin, which is made by the pancreas. Insulin helps glucose enter the cells” (Diabetes Mellitus).
Glycogen storage disease is the result of a defect in the synthesis or breakdown of glycogen that is found in muscles, the liver and many other cell types. This disease may be genetic or acquired and is usually caused by a defect in certain enzymes that are important in the metabolism of glycogen. To date, there are 11 different classifications for glycogen storage disease but this paper will focus on glycogen storage disease type 1 (GSD I), also known as von Gierke’s disease, after the German doctor who discovered it.