-
Essay / Hutchinson-Gilford Progeria Syndrome - 1074
Hutchinson-Gilford Progeria Syndrome, also known as "Progeria", is a genetic disorder that causes accelerated symptoms of aging in children (Progeria: Hutchinson -Gilford Progeria, 2007). Although extremely rare, this devastating disease is universally fatal. The purpose of this article is to review the causes, effects, and current treatments of this deadly disease. Progeria is caused by a mutation in the LMNA gene. In normal cells, this gene encodes the structural protein lamin A. Lamin A, along with lamin B and lamin C, is a supporting component of the nuclear envelope (The Science Behind, 2014). It provides strength and stability to the cell nucleus. A mutation in the LMNA gene causes the production of defective lamin A. This causes instability of the nuclear envelope (Bouhouche, 2007). This distorted nuclear envelope renders the cell incapable of replicating its DNA and dividing normally. This action results in the hallmark symptoms of Progeria – rapid, accelerated aging, and a host of resulting health problems that will be described throughout this article. Children with Progeria appear normal at birth. According to the Progeria Research Foundation, Progeria does not cause any abnormal complications during pregnancy or childbirth. The only variation from normal pregnancies and deliveries is a slightly lower birth rate in Progeria patients; symptoms usually first appear between 18 and 24 months of age (Diaz, 2011). A distinctive blue vein appears on the bridge of the baby's nose; slow growth and slight hair loss soon appear. The symptoms then worsen over time. They have dilated veins around the head and insufficient space for tooth development (Pesce and Roth, 1996). They begin to lose subcutaneous fat, their...... middle of paper...... Ot-Marie-Tooth disease (ARCMT2): phenotype-genotype… ….…correlations in 13 families Moroccans. Brain. April 13, 2007 (part 4): 1062-75. Diaz, J. (July 29, 2011). Children living with progeria: in their world. Retrieved……from http://abcnews.go.com/Health/children-living-Progeria-inside-……world/story?id=14182279Gordon, L., Brown, W., & Collins, F. (2011). Hutchinson-Gilford Progeria Syndrome. In ……R. Pagon, M. Adam, T. Bird, C. Fong and R. Smith (Eds.), GeneReview Retrieved from ……http://www.ncbi.nlm.nih.gov/books/NBK1116/Pesce, K., & Rothe, M. (1996). Premature aging syndromes. Clinics in… Dermatology, 14(2), 161-170. Retrieved from…http://uw8rw3ad9q.search.serialssolutions.com/?sid=Entrez:PubMed&id=pmid:155763Progeria: Hutchinson-Gilford Progeria syndrome (HGPS). (2007, October). Retrieved……from http://americanpregnancy.org/birthdefects/Progeria.htm