Disease Symptoms Neurofibromatosis type 2 (NF2) is a disease in which benign tumors develop and grow on various types of nerves along the central nervous system. It is caused by a mutation in the gene neurofibromonin-2. This gene typically acts as a tumor suppressor; a mutation in this gene causes failed suppression of tumors, resulting in the uncontrolled cell division that leads to the formation of tumors. These tumors develop and grow on various nerves along the central nervous system, directly affecting the nerves’ functions and therefore affecting an individual, specifically in the central nervous system. For instance, one vestibular schwannomas are a type of tumor which develop as a result of this disease. They grow on and affect …show more content…
One of the biggest complications as a result of this disease is deafness; bilateral vestibular schwannomas can cause hearing loss, but if left untreated, the tumors will continue to grow and further affect hearing. The presence of these tumors, in general, is dangerous to an individual. Brain tumors and spinal tumors can form and based on their location, can significantly affect an individual. There are two methods to eliminate the schwannomas: microsurgical tumor resection and stereotactic radiosurgery (OMIM). Both methods involve tumor removal, which may hinder development of additional tumors. Failure to resort to either of these methods will result in a lesser quality of life and consequently, more serious complications for the affected …show more content…
Research, though, has not revealed areas in the world where the disease is most prevalent or the ethnicities that carry a higher risk for the disease. The full name of the gene that is affected, and consequently causes NF2, is neurofibromin-2 (OMIM). The gene symbol is Nf2, so in order to differentiate between the disease and the gene, the gene will be referred as an alternate name: merlin. Merlin is found on chromosome 22, and the specific location on which it is found is 22q12.2 (OMIM). Merlin typically acts as a tumor suppressor; NF2 is caused by a mutation in the gene sequence. When it is mutated, it fails to do its job as a tumor suppressor and therefore allows cells to divide uncontrollably, forming tumors. These tumors develop on critical nerves in the central nervous system. Depending on which type of nerve it has grown on, the consequences can be minor or severe. Research has not specified which ethnic groups are affected by the disease, nor which ethnic groups are at a higher risk for having the disease.
... in glioma cells (suppression of autophagy, mentioned above, is often accompanied by activiation of apoptosis). Silencing eEF-2 kinase expression with the inhibitors (NH125) remarkably increased the TMZ-activated apoptosis in human glioma cells. One other important discovery of this experiment was that the combination of TMZ and NH125 did not cause TMZ to destroy normal human astrocytes. Essentially, co-treatment of TMZ with NH125 made TMZ more effective against glioma and produced a better survival benefit for the mice, but could not cure the mice. This may be because the amount of NH125 (eEF-2 inhibitor) used was not enough, or the dosages of TMZ and NH125 were not optimal. Nonetheless, development of better and more effective inhibitors of eEF-2 kinase may help in finding the cure for glioblastoma multiforme, the malignant and extremely aggressive brain tumor.
Canavan disease is thought to effect less than a thousand people in the United States. One in forty are carriers for the disease. It occurs within people of all ethnic backgrounds but most commonly found in the people of Ashkenazi Jewish heritage. This is thought because those of the Jewish faith often marry within the same group or culture. These people are a group located mostly in eastern and central Europe.
Spinal Muscular Atrophy, also known as “SMA” is a genetic and also a motor neuron disease that affects the area of the nervous system that controls your voluntary muscle movements such as walking, crawling, and swallowing. When someone acquires this condition their muscles start to shrink as a cause to the muscles not receiving signals from the nerve cells in the spine that control function. Spinal Muscular Atrophy is a rare but serious condition.
A. NF is caused by a mutation in the NF1 gene, which creates the protein neurofibromin.
people have been known to get it. There is no specific race or ethnic background
Neurofibromatosis is caused by the loss of function mutation in the Nf1 gene. Nf1 encodes neurofibromin, a protein with a Ras GTPase activating domain. Neurofibromin is critical for the regulation of proliferation and differentiation of progenitor cells. It has bee...
The contributing factor is lack of knowledge and family medical screening. Understanding the history of your genetic line specific to your race and ethnicity may be helpful in preventing heart disease later on in adulthood.... ... middle of paper ... ... Current studies of note have focused primarily on middle-class and/or suburban populations.
The disease is found in a mutation on the HEXA gene. The HEXA gene makes beta-Hexosaminidase A, an enzyme that is necessary for proper spinal cord and brain development. This works to break down GM2 ganglioside, a fatty substance. When a mutation occurs here, the GM2 ganglioside can’t be broken down, accumulating to harmful levels in neurons of the brain and spinal cord, which results in the damaging symptoms of the disease.
Marfan syndrome is an autosomal dominant disorder resulting from mutations in the gene fibrillin-1 (FBN1) found on chromosome 15 (McKusick V, O'Neill M, 2013). At least 140 different mutations of this gene have been recorded since 2008 (Frey R, Lutwick L, 2009). The FBN1 gene regulates the manufacturing of the fibrillin-1 protein that assists in constructing fibrous filaments which are present in portions of the fibers in connective tissue (Frey R, Lutwick L, 2009). Those filaments manage the discharge of growth factors or protein molecules which prompt the reproduction and growth of cells (Frey R, Lutwick L, 2009). In healthy individuals, the filaments discharge growth factors at the right moment but those who have Marfan syndrome are faced with the dilemma of growth factors being discharged too soon. The early release of growth factors results in fragile connective tissue and the uncommonly lengthy limbs of those with the disorder.
This disease is caused by a defective gene and was discovered in the 1930's. Scientists are
Diseases lie in a large geographical content. Lyme disease is mostly found in the United States of America and Europe.
Incidence and Prevalence :Intracranial (brain) tumors account for 85 to 90 percent of all primary central nervous system (CNS) tumors. Primary tumors arising from the spinal cord, spinal nerve roots and dura are rare compared to CNS tumors that arise in the brain. Overall prevalence is estimated at one spinal tumor for every four intracranial lesions. About 10,000 Americans develop primary or metastatic spinal cord tumors each year.
This can potentially be a problem as all humans are different, and therefore each case is different. Race can sometimes be a misleading factor that leads to a false, premature diagnosis but this is so rare. When diagnosing a disease, medical professionals send results into a lab to be tested. Stating that knowing the race of a patient often causes misdiagnoses is absurd.
Marfan syndrome is a genetic disorder that affects the connective tissue. It is the most common inherited disorder of connective tissue that affects multiple organ systems. It is also called arachnodactyly. This autosomal-dominant condition has an incidence of 2-3 per 10,000 individuals. It is caused by a defect in the gene that tells the body how to make firillin-1. This a protein that helps make up connective tissue. The mutation causes more of the protein called transforming growth factor beta to be produced. Because connective tissue is located throughout the body many different parts of the body can be affected.
...urgery, and radiation therapy. Due to the fact that acoustic neuromas grow slowly, immediate treatment may not be necessary so Doctors will monitor the tumor with periodic MRIs and suggest other treatment if the tumor enlarges. Surgery may involve all or part of the tumor. There are three main surgical approaches translabyrinthine, retrosigmoid/sub-occipital, and Middle fossa. There is also a new technique called endoscopic resection which enables surgeons to remove acoustic neuromas using a small camera inserted through a hole in the skull. There are two types of radiation therapy: the first is Single fraction stereotactic radiosurgery (SRS) and Multi-session fractionated stereotactic radiotherapy (FRS), Selecting the right treatment depends on the size of the tumor, whether the tumor is growing. age. other medical conditions you may have and severity of symptoms.