Everyone in this world faces adversity at some point in their life. Everyone is not, however, born with a genetic condition that has the odds stacked against them from the very beginning. Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare form of genetic mutation that shows some aspects of physiological aging from a very young age. Symptoms become more prominent as a carrier of the disease ages. HGPS is of interest to me, because this is a disorder that resembles accelerated aging, and if we were able do truly understand what causes these conditions and symptoms of HGPS to come about, it is not too farfetched to believe that we could one day slow or reverse the effects of certain symptoms associated with aging, such as blindness, deafness,
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This mutated protein then replaces what should be lamin A in the nuclear lamina, causing the abnormalities to the cell’s nucleus and its function (Trigueros-Motos et al 1286). It is highly unlikely for HGPS to be inherited, because most individuals who possess HGPS do not live to the age of reproduction. Because this condition is known to be heterozygous, this means that the gene that expresses the phenotype for HGPS is a dominant allele. The mutation at codon 608 is on chromosome one, meaning that the mutation is autosomal, and not an X-linked trait. The reason this genetic disorder is not more common for a dominant autosomal trait is largely due to the fact that many and most people that express this trait do not live to the age of …show more content…
The only available options for HGPS patients currently are symptom treatment. There have, however, been clinical studies with promising results of farnesyltransferase inhibitors (FTIs). Per Reham et al., the trials with FTIs do not prevent HGPS, but have been shown to inhibit, or reduce the progerin protein from attaching to the nuclear lamina, preventing the disease from progressing. With the FTIs, clinical complications common in HGPS were proven to be drastically reduced, expanding the lifespan of the HGPS patients. Ibrahim et al. also had similar success with trials using
This mutated protein then replaces what should be lamin A in the nuclear lamina, causing the abnormalities to the cell’s nucleus and its function (Trigueros-Motos et al 1286). It is highly unlikely for HGPS to be inherited, because most individuals who possess HGPS do not live to the age of reproduction. Because this condition is known to be heterozygous, this means that the gene that expresses the phenotype for HGPS is a dominant allele. The mutation at codon 608 is on chromosome one, meaning that the mutation is autosomal, and not an X-linked trait. The reason this genetic disorder is not more common for a dominant autosomal trait is largely due to the fact that many and most people that express this trait do not live to the age of …show more content…
The only available options for HGPS patients currently are symptom treatment. There have, however, been clinical studies with promising results of farnesyltransferase inhibitors (FTIs). Per Reham et al., the trials with FTIs do not prevent HGPS, but have been shown to inhibit, or reduce the progerin protein from attaching to the nuclear lamina, preventing the disease from progressing. With the FTIs, clinical complications common in HGPS were proven to be drastically reduced, expanding the lifespan of the HGPS patients. Ibrahim et al. also had similar success with trials using