The causes of this disorder due to an autosomal recessive and a mutation in several genes involve the absence production of melanin. In some types of albinism, if each parent has one copy of defective gene there is a chance that each offspring will be an affected or a carrier. The signs and symptoms of Albinism are absence color (skin, hair, and eyes), lighter than a normal coloring (hair, skin and eyes), patches of skin that have an absence of pigment. The most common to diagnosed albinism by the used of genetic testing, it detects the defective gene that related in this disorder. Since the Albinism is no cure, treatment is for relieving the symptoms or preventing sun damage, they wear sunglasses with UV protection to protect their eyes from sun’s rays, protective clothing and sunscreen protection to protect skin from UV
Definition of Liver Cirrhosis Cirrhosis is a complication of many liver diseases characterized by abnormal structure and function of the liver. The diseases that lead to cirrhosis do so because they injure and kill liver cells, after which the inflammation and repair that is associated with the dying liver cells causes scar tissue to form. The liver cells that do not die multiply in an attempt to replace the cells that have died. This results in clusters of newly-formed liver cells within the scar tissue. There are many causes of cirrhosis including chemicals (such as alcohol, fat, and certain medications), viruses toxic metals (such as iron and copper that accumulate in the liver as a result of genetic diseases).
Medicating children does not fix them. In America, the most prescribed drugs to children is Ritalin for ADHD. Across America, parents worry that their child is different (Pearlman 4). To fix that problem they take the child to be tested. When a child gets tested for something like ADHD it usually a fifteen to twenty-minute appointment and they walk out already diagnosed (Newmark 2).
Class I is the minimal mesangial lupus nephritis and for patients who are classified under this usually are in remission. The worst class, Class VI (Advanced sclerosis lupus nephritis) is embodied by a gradual progressive kidney dysfunction. This complication is the one most scientists use for research as this affects the majority of Lupus patients. Other complications could include organs such as lungs, brain, intestines, and
Such proteins form hair-like fibers, or fibrils, that are deposited into vital organs like the brain, heart, kidneys, liver, and pancreas in this unstable state. Horribly, the process may leads to organ failure and eventually death. There are many types
This is a trans-membrane protein of the Golgi network, responsible to remove excess copper out of the cell through ceruloplasmin. Mutations in ATP7B gene lead to an abnormal ATPase protein which is incapable of removing excess copper leading to its accumulation in different tissues. So far 500 mutations have been reported . The consequences can be very fatal, if not diagnosed and treated properly as it can lead to irreversible damage to brain and liver
The Stem Cell Controversy What if I told you that scientist are on track of curing diseases such as Parkinson's disease and multiple sclerosis? We could end the suffering of thousands, maybe even millions with so called “incurable diseases”. Many diseases can become curable with the potential results of embryonic stem cell research. Embryonic stem cells are stem cells isolated from embryos during a specific age of development known as the blastocyst stage. These stem cells can regenerate themselves and reproduce to form all different cell types of the body.
Cellular integrity, in turn, prevents errors that arise from DNA replication, cellular metabolism, and carcinogenic exposure. These exposures consist of ultraviolet light, radiation, or damaging chemical substances. Many professionals believe that tumor initiation and following progression result from acquired genomic alteration within normal cells. The populations of tumor cells appear to be more unstable genetically than normal unaltered cells. Genomic instability causes individuals to maintain shorter cell cycles and also causes the bypassing of intracellular and immunological control systems.
If you don’t already know what Alzheimer's is, it’s a disease that results in memory loss and even confusion, due to the loss of connections between nerve cells in the brain and the death of these nerve cells. APOE is actually one of the many genes that can directly influence your chances of getting Alzheimer’s. There are actually three types of the APOE gene: APOE2, APOE3, and APOE4. APOE4 is actually one of the types that increase your chances for Alzheimer’s and lowers the actual age of onset. When testing for Alzheimer’s, it's not all that different than if you were doing it with a different disease.
Anemia is mainly causes by iron deficiency. If not treated it leads on to deficiencies of thyroid hormones, folate, vitamin B12 and other important hormones in the body. Other causes may include chronic diseases like megaloblastic anemia. On the other hand when the values are above normal, it maybe be as a consequence of dehydration in which the value should be raised. • Neutropenia White blood cells include neutrophils, neutrophils function and immune system protector that combat against diseases and infections.
Amyloidosis occurs mostly in people whose myeloma has the light chain components of immunoglobulins to form a sticky protein called amyloid, impairs the function of whichever organ it is in. The kidney damage due to myeloma is fatigue, nausea, vomiting there also could be no signs and could cause foamy urine. Hyperviscostly syndrome can cause bruising from the mouth, nose, headaches, confusion, sleepiness, and problems with feeling their limbs. A bone marrow sample is taken to see what stage you can be treated
Metabolism is the process in which nutrients are broken down within the body to create energy. This occurs through a series of chemical reactions, which, when disrupted, can be called a metabolic disorder. This occurs when the presence of a substance is missing or it is in a high quantity. These types of disorders occur when an organ is diseased, but can also be the result of genetics, like Wilson’s disease. Wilson’s disease is an autosomal recessive disorder in which there is a copper build-up in the body, and can be fatal unless diagnosed and treated early.
The correlations between phenotype and genotype have not yet proven, but most mutations of the ABCA12 genes are though to be core that leads to HI disease. Mutations of the ABCA12 genes are thought to lead to major loss of this protein functions because it effect the folding of the beta and alpha sheets in order to become functional proteins that is essential for lipids transport across the cell membrane to the epidermis layer of the skin. One other disease that is also associated with mutations of ABCA12 gene is lamellar ichthyosis (LI). This disease is the less severe version of HI, due to lower incidents of mutation in the affected genes. The mutated ABCA12 in LI can still make functional proteins that somewhat help with lipids binding across the outer skin layer.
Creutzfeldt-Jakob’s Disease: Neuromuscular Disease Creutzfeldt-Jakob’s Disease (CJD) is a rare, degenerative, invariably fatal brain disorder, which is derived from transmissible spongiform encephalopathy caused by prions. Prions occur in a normal state, which are harmless proteins found in the body’s cells, and also in an infectious form that causes disease. Harmless forms of prion proteins have the same sequence of amino acids, but the infectious forms of protein have a different folded shape than normal proteins. Once the abnormal protein prion appears they aggregate together, giving the brain a spongy appearance, characterized by tiny holes. These infectious particles are mainly found on the surface of cells in the central nervous system.
Wilson’s disease (or hepatolenticular degeneration) is a rare genetic disorder that causes excess amounts of copper to build up in the body, thus creating copper deposits which ultimately inhibit the body’s ability to function properly. It is an extraordinarily fatal condition among people who are not diagnosed and treated, as the copper buildup commences immediately after birth. Although most humans contain more copper in their bodies than is needed, it is usually eliminated through urine or bile, the dark yellow/brown fluid which is produced by the liver in humans. When bile is excreted from the liver, it is dispatched to the duodenum, a section in the small intestine which is the site of chemical digestion in humans. From there, the copper is broken down and sent to the jejunum to be absorbed by the body for use in various tasks such as the development of healthy nerves, bones, collagen (a protein essential for tissue support, development, and elasticity), and melanin (a pigment that gives color to human skin, hair, and eyes).