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Causes And Symptoms Of Progeira Disease

773 words - 4 pages

Progeria Disease
The moment that we are born we begin the aging process, where the majority of humans are born youthful and slowly grow older. Our bodies display normal wear and tear done from our past such as; aged skin, hair loss, and joint stiffness as we progress through life. Imagine being a new mother and one day you notice your infant displays symptoms of accelerated aging. Well, about one in 8 million children are born with an extremely rare, fatal genetic disease called Progeria (Neelam, Singh). The name is derived from the Greek word progeros meaning ‘prematurely old’. There are different variations of this disease; the most common type being Hutchinson-Gilford Progeria Syndrome (HGPS). The discovery was first made in 1886 by Dr. Jonathan Hutchinson, and then in 1897 Dr. Hastings Gilford was the first to refer to the disease as Progeria. This paper will discuss the cause of the disease, along with signs and symptoms that are commonly displayed. Progeria is caused by abnormal genes, resulting in rapid aging of individuals who suffer chronic and progressive symptoms, ultimately affecting the quality of life.
This extremely rare disease is caused by a mutation in the LMNA gene. Normally this gene produces a protein called Lamin A. This protein functions as a structural component in the nuclear envelope, and plays an important role in determining the shape of the nucleus. According to Sarkar, mutations that cause Hutchinson-Gilford progeria syndrome result from the defective Lamin A protein. This alteration creates an unstable nuclear envelope there by damaging the nucleus. Cellular instability leads to the process of premature aging
A newborn with Progeria disease typically appears healthy at birth. It affects both males and females of all races. First symptoms start to develop approximately around six months to one year of age, which include failure to thrive and significant decline in growth. Children lack weight gain, they also display distinctive face characteristics of the disease such as; tight skin, a pinched nose, small face and jaw. As the child ages they later develop wrinkled skin, atherosclerosis, hair loss, kidney failure, joint abnormalities, loss of eyesight, body fat and muscle, , and the most sever symptom; cardiovascular disease. “Death due to cardiovascular abnormalities in approximately 75% of patients and the average age of death is 16 years, but survival until 26 years has been recorded”...

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