Progeria Essay Examples & Outline

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Progeria

Progeria is a genetic condition that causes children to age fast. The condition is also called the Hutchinson-Gilford syndrome. Progeria is a rare disease can lead to child mortality. Most children with the condition experience various complications and their life span is reduced. In most cases, children with the condition do not live past thirteen years after the disease’s onset. The disease manifests in both sexes equally.

This essay evaluates the disease epidemiology of the Progeria disease. Furthermore, this essay seeks to evaluate what factors lead to the development of the condition, and what treatment options are available. The essay also focuses on the arising issues with respect to the disease.

Progeria develops because of a gene mutation. The gene that leads to the progeria condition is known as gene LMNA. The LMNA gene enhances secretion of Lamin A protein. This protein facilitates the structural scaffolding that binds the cell nucleus together. The Lamin A protein makes the nucleus unstable. Thus, this cellular instability results to the premature aging in the Hutchinson-Gilford Syndrome (Porth, 48).

Children born with the condition appear normal at birth. The progeria condition begins to replicate the premature aging characteristics within the first 17-25 months after birth. The signs and symptoms presented by the condition include loss of body fat, growth failure, stiffness in the joints, stroke, heart disease, hip dislocation and generalized atherosclerosis. However, the normal features associated with natural aging, cataracts, and osteoarthritis, do not manifest in children with progeria.

The complication of the disease mostly occurs because of stroke or heart attack. Angioplasty and coronary artery surgery have failed to cure life threatening cardiovascular complications created by the progressive atherosclerosis. There are specific treatment or cure for the condition (Okines, Hayley, and Kerry, 20).

According to the Progeria Research Foundation, the disease never affects parent carriers of the gene mutation. Clinical observations reveal that the genetic mutation is present in almost all instances, but, it occurs where the sperm cell is about to undergo conception. Most progeria cases are found to arise from a single substitution of one base pair in the approximately 25, 000 DNA base pairs that together constitute the LMNA gene (El-Darouti, 76).

The LMNA gene codes for Lamin A and Lamin C play an essential role in the stabilizing of the inner membrane of the cell nucleus. In progeria cases, a mutation occurs in the LMNA gene causing it to produce an abnormal Lamin A protein. Therefore, the abnormal Lamin A protein destabilizes the cell’s nucleus membrane in a manner that harms the body tissues. The intense physical force on the cell’s nuclear membrane disrupts the body tissues. Thus, mot body tissues are affected by the abnormal gene mutation. For instance, tissues present in the musculoskeletal and cardiovascular systems are affected by the progeria condition (Hoeman, 89).

In order to assess whether your child has progeria condition, a Hutchinson-Gilford syndrome genetic test is available at acute primary care level in the United States of America. An early diagnosis of the condition enables medical practitioners to initiate early treatment options before the condition gets complicated. Children with other progeroid syndromes that are not progeria may suffer from genetic disease passed down in their families. However, for the progeria case the child with the genetic mutation experiences a change in the family genetic composition (Hoeman, 238).

Parents who have never had a child with the progeria condition before have low chances of having a child with the condition. On the other hand, parents who have had children diagnosed with the condition are likely to have another child with the condition. This is because of “mosaicism”, which is a condition that occurs when a parent has some genetic mutation for progeria present in their genes, but they do not replicate in their cells. There are testing options available to test whether parents have potential LMNA genetic changes that lead to the progeria disorder (El-Darouti, 81).

Although there are no treatment or cure options for progeria patients, new groundbreaking research shows the possibility of a treatment option for the disorder. A study by the National Institutes of Health researchers shows that there are solutions to the unknown link between progeria and the premature aging it causes. The findings simulate that there is a relationship between the toxic protein that causes progeria (progerin) and telomeres (Acton, 317).

Telomeres are proteins that protect the DNA ends within each cell until they wear out eventually, and the cells die (El-Darouti, 87). The research study concluded that in normal aging, dysfunctional telomeres stimulates the cells to secrete progerin. Progerin then causes the age-related cell damage in old adults. Therefore, there is a new research indication comparing the progeria premature aging to the normal aging process. The cure for the progeria condition has not been found, but the link between progerin and telomeres paves way for new researches (Hoeman, 302).

Available Treatment and Management plans for the Progeria Condition

Although there is not effective treatment therapy for the progeria condition, management therapy can enable the child live longer. These management plans include careful monitoring of the cerebrovascular and cardiovascular disease that present with progeria. Cerebrovascular atherosclerotic disease and the cardiovascular disease can be maintained through administering progeria patients with low doses of aspirin. Further, occupational and physical therapy is advised in order to engage the progeria patients with an active lifestyle. Medical practitioners can also use hydrotherapy to help the progeria patients in joint mobility and reducing the arthritis symptoms experienced by patients (El-Darouti, 98).

Moreover, progeria can also be maintained by provision of adequate nutritional intake for the patients. This is because most progeria patients show poor feeding habits. The provision for adequate nutritional intake includes placement of a gastrostomy tube in order to provide the children with enteral feeding. In cases where the patients are past nine years, consumption of foods rich in energy is recommended. Further, careful monitoring of the child’s nutrition and growth is also necessary (Acton, 298).

Medical practitioners may also provide growth hormones to decrease the patients’ catabolic demands and supplement weight gain. Consequently, the exposure of progeria fibroblasts to rapamycin (a macrolide antibiotic) enables the patients to reduce aging-related cellular pathways. Further, rapamycin enables the patients to reverse their nuclear blebbing, and it facilitates degradation of progerin (Acton, 310).

Studies also reveal that the use of farnesyltransferase inhibitors to correct the functional and structural nuclear defects. However, the use of the farnesyltransferase inhibitors in not proved to correct progeria abnormalities that result from the loss of normal Lamin A functions. A clinical trial of farnesyl transferase inhibitor (FTI) lonafarnib proved that the FTI could improve the bone mineral density and weight gain for progeria patients (Acton, 317).

Consequently, FTIs used in transgenic mouse models have showed possibility of the inhibitors to prevent cardiovascular complications that occur because of the progeria complication. Further, the FTI has also shown chances of improving the reversal of cutaneous manifestations of the phenotypic progeria features such as increased longevity. The use FTI-276 or a combination of pravastatin and zoledronic acid has been shown to improve the reversal of morphological nuclear abnormalities that are present in progeria patients (Sybert, 651).

Progeria cases are usually rare and this is reducing because of the available progeria tests that are available to mothers. These tests enable mothers who have tested positive for progeria mutations to engage in family planning practices that will enable them avoid delivering children with the condition. Further, children are now tested for progeria at an early age, which paves way for early management practices that improve the life span of the child. Moreover, progeria has reduced due to the research innovations such as development of an FTI lonafarnib that can partially reverse the condition with two and a half years of treatment (Sybert, 654). These new laboratory innovations have reduced the sereneness of the progeria disorder.

The above graph shows how use of management therapies improves the progeria sereneness among patients. The ongoing researches indicate future hope of establishing a progeria cure.
Increased mass education and improved patient care services have enabled progeria patients to achieve an active and prolonged life. The government should continue creating initiatives that facilitate rehabilitation of children with the progeria disorder.

Works cited

Acton, Q A. Stem Cells: Advances in Research and Application. , 2012. Internet resource.
El-Darouti, Mohammad A. Challenging Cases in Dermatology. London: Springer, 2013. Internet resource.
Hoeman, Shirley P. Rehabilitation Nursing: Prevention, Intervention, and Outcomes. St. Louis, Mo: Mosby/Elsevier, 2008. Print.
Okines, Hayley, and Kerry Okines. Old Before My Time: Hayley Okines' Life with Progeria. Bedlinog: Accent, 2011. Internet resource.
Porth, Carol, and Carol Porth. Essentials of Pathophysiology: Concepts of Altered Health States. Philadelphia: Wolters Kluwer/Lippincott Williams & Wilkins, 2011. Print.
Sybert, Virginia P. Genetic Skin Disorders. New York: Oxford University Press, 2010. Internet resource.
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