Hutchinson-Gilford Progeria Syndrome (HGPS)
Hutchinson- Gilford Progeria Syndrome, or HGPS, is a rare genetic disorder characterized by accelerated aging; occurring only once in every four million births resulting in 142 cases world wide and 97% of those cases affecting the Caucasian population1,2,. In most cases, the child is carried a full term pregnancy demonstrating little to no complications and appears normal from birth up to infancy. It isn’t until after the first or second year of the child’s life that symptoms begin to appear and the accelerated aging is activated1,3. Unfortunately, this disease only projects a seven to twenty-seven year life expectancy with the average being 13 years1 .The most common causes of death amongst patients diagnosed with HGPS tends to be myocardial infarction or congestive cardiac failure, and up to this point no effective treatments have been discovered3. This paper will go on to discuss the causes of Hutchinson-Gilford Progeria Syndrome and its relation to premature aging, in addition to the commonly possessed symptoms of the disease.
Hutchinson-Gilford Progeria Syndrome is the result of mutation in the LMNA gene, which codes for LAMIN A/C. In each organism’s cells there is a nuclear lamina or an inner nuclear membrane that comes in contact with the protein network4. Lamin A protein is important for DNA replication, RNA transcription, chromatin functions, and is involved in cell cycle regulation, cell growth and differentiation, and cell death1. Therefore, mutations or alterations of this protein can cause acceleration of those processes and cause the person to age at a rate much faster than normal. The lamin A gene mutation generates an accumulation of progerin, which is a truncated splicing mutant of lamin A, and accumulation of that progerin leads to allocated nuclear defects as well as both psychological and physical signs of aging2,4 So HGPS then results in implicated molecular changes, such as genome...
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