The Genetic Disorder of Progeria

The Genetic Disorder of Progeria
Introduction
Progeria refers to a disorder whose explanation lies in genetics. It is a disease that affects infants, and it is rare (Sternberg 1). The infant shows the symptoms of aging at a very early age. The term Progeria translates to premature aging. Progeria is not an inherited disorder. The people who suffer from the disease do not live for long (Roach and Miller 150). The disease occurs as a result of gene mutation, and the mutation is independent of the inheritance factors. The aim of the researcher is to give a detailed description of the disorder. The researcher explains the signs and symptoms that one can use to identify a child suffering to the disorder. The researcher also discusses the causes, diagnosis, and treatment of the disease.
Signs and Symptoms of Progeria
The symptoms of Progeria emerge in the children who suffer from the condition during the first few months after birth. The child’s body shows a slow rate of development with a retarded skin. As the child grows beyond the infancy stage, additional symptoms of the disease emerge. The child, for example, loses her hair. The body of the child experiences limited and irrational growth. The child develops a characteristically small face. However, the skull budges and the blood veins appear underneath the thin skin (Roach and Miller 150). The skin hardens and the child develops wrinkles on her face. The child also develops internal problems that are common among the aged populations. The child, for instance, develops diseases like kidney failure and heart problems (Roach and Miller 150). The child also experiences loss of eyesight as she grows past infantry. The child develops a narrow face, prominent eyes, and a beak nose (Roach and Miller 150). The child’s muscle also degenerate making her lose her muscles and fat. As the symptoms develop, they do not affect the child’s mental and physical development, a factor that makes people to imagine that the child’s growth is normal.
Cause
Progeria is an effect of a point mutation on the LMNA gene (Sternberg 1). Position 1824 of the gene undergoes the effect of the mutation, and thymine replaces cytosine during the mutation. The mutation on the LMNA gene affects exon 11, where it creates a cryptic splice site that is 5 inches wide. The mutation causes an mRNA transcript that is abnormality short and mature. The translation of the RNA transcript causes an abnormal variation of prelamin A protein (Sternberg 1). The abnormal protein is called progerin, and it remains a permanent part of the nuclear of the lamina. The envelope of the nuclear develops an abnormal shape. Since the cells of the child produce progerin at a very early age, causing the premature aging.
Diagnosis and Treatment
The diagnosis of the disorder relies on the physical symptoms of premature aging (Sternberg 1). The symptoms such as an aging skin, abnormal or irrational growth, and the child losing her hair, cause the suspicion for a clinical diagnosis. After observing the symptoms, it is important to conduct the genetic test to determine if the child has mutations on LMNA (Sternberg 1). The test can confirm if the child suffers from the disorder.
Progeria lacks an effective treatment. The available treatment options focus on treating the symptoms and not the disease (Roach and Miller 150). A bypass surgery of the coronary artery, for example, aims at reducing the effects of the cardiovascular disease. Putting the child on a diet that is rich with energy foods is an intervention that helps a child who suffers from the disease (Roach and Miller 150). Scientific studies and experiments continue searching for a cure for the disease but they have not yet yielded the expected results. The genetic disorder, therefore, remains without cure.

Works Cited
Roach, Steve E. & Miller, Van S. Neurocutaneous Disorders. Cambridge University Press.
P.150. 2004. Print.
Sternberg, Steve. “Gene found for rapid aging disease in children”. USA Today. April 16, 2003.
Web. September 26, 2014. http://usatoday30.usatoday.com/news/science/2003-04-16-agin-gene_x.htm

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