blog




  • Essay / Causes and Symptoms of Progeria Disease - 620

    Progeria DiseaseThe moment we are born, we begin the aging process, where the majority of humans are born young and age slowly. Our bodies experience normal wear and tear from our past, such as aging skin, hair loss, and joint stiffness as we progress through life. Imagine you are a new mother and one day you notice that your baby is showing symptoms of accelerated aging. Well, approximately one in 8 million children are born with an extremely rare and fatal genetic disorder called Progeria (Neelam, Singh). The name is derived from the Greek word progeros which means "prematurely old". There are different variants 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 call the disease Progeria. This article will discuss the cause of the condition, as well as the signs and symptoms commonly displayed. Progeria is caused by abnormal genes, leading to rapid aging of individuals who suffer from chronic and progressive symptoms, ultimately affecting 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 of the nuclear envelope and plays an important role in determining the shape of the nucleus. According to Sarkar, the mutations that cause Hutchinson-Gilford progeria syndrome result from defective Lamin A protein. This alteration creates an unstable nuclear envelope by damaging the nucleus. Cellular instability leads to a premature aging process. A newborn with Progeria disease usually appears healthy at birth. This affects both men...... middle of paper ...... day with this deadly disease. A mutation in the Lamina A protein cell causes rapid aging, ultimately affecting the way one lives their life. With early diagnosis of Progeria, damage can be avoided and following management precautions can also significantly increase quality of life. Works CitedChien, H. (2012). Progeria [Electronic version]. Springer Link, 1735-1741. doi:10.1007/978-1-4614-1037-9_197Neelam, S., Krishna, M., Semwal, B.C., Shravan, P., Kuldeep, S., & Deepak, S. (2012). PROGERIA: A REVIEW. International Journal of Pharmaceutical Sciences Review and Research, 14(1), 44-49. Retrieved from http://search.proquest.com/docview/1018555014?accountid=1599Sarkar, PK and Shinton, RA (2001). Hutchinson-Guilford progeria syndrome. Postgraduate Medical Journal, 77(907), 312-7. Retrieved from http://search.proquest.com/docview/206274391?accountid=1599