Hutchinson-Gilford Progeria Syndrome Case Study
Hutchinson-Gilford progeria syndrome (HGPS) is a genetic condition that is characterized by the rapid appearance of aging beginning during the childhood of whomever is affected. Those affected typically look normal at birth, but then as they begin to grow the symptoms become more apparent. Hutchinson-Gilford Progeria Syndrome is an incurable premature aging disease caused by the accumulation of progerin. Progerin is a toxic Lamin A mutant protein and is most often generated by a silent point mutation (C1824T). Most cases of HGPS are caused by a G608G (GGC > GGT) single-base mutation within exon 11 of the LMNA gene. Patients with HGPS often exhibit nuclear morphological abnormalities, altered signaling pathways, genomic instability, and premature
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This means that one copy of the altered gene in each cell is sufficient enough to cause the disorder to become active in the individual. The condition results from new mutations in the LMNA gene, and almost always occurs in people with no history of the disorder in their family. Due to the disease almost always been caused by an accidental, spontaneous mutation, it is very uncommon for more than one child within a family to be born with the Hutchinson-Gilford syndrome. In the case of HGPS it is not the gene that directly causes the disorder, but a non-functioning protein that is created using the code provided by the gene. This condition is considered to be very rare and it is reported to occur only in 1 in 4 million newborns worldwide. At this time there have been more than one hundred forty cases have been reported in the scientific literature since the condition was first discovered in …show more content…
Reconstituting vitamin D receptors signaling via 1α, 25-dihydroxyvitamin D3 treatments improve HGPS phenotypes, including nuclear morphological abnormalities. It was also discovered that the 1,25D axis regulates LMNA gene expression, as well as expression of DNA repair factors. The 1, 25 D dramatically reduces progerin production in HGPS cells and helps with two key factors for the genome integrity. Due to these results vitamin D axis comes out as a new target for the treatment of HGPS. Since progerin expression increases as people age, maintaining vitamin D signaling could help keep the levels of progerin correct during the physical aging of HGPS
This means that one copy of the altered gene in each cell is sufficient enough to cause the disorder to become active in the individual. The condition results from new mutations in the LMNA gene, and almost always occurs in people with no history of the disorder in their family. Due to the disease almost always been caused by an accidental, spontaneous mutation, it is very uncommon for more than one child within a family to be born with the Hutchinson-Gilford syndrome. In the case of HGPS it is not the gene that directly causes the disorder, but a non-functioning protein that is created using the code provided by the gene. This condition is considered to be very rare and it is reported to occur only in 1 in 4 million newborns worldwide. At this time there have been more than one hundred forty cases have been reported in the scientific literature since the condition was first discovered in …show more content…
Reconstituting vitamin D receptors signaling via 1α, 25-dihydroxyvitamin D3 treatments improve HGPS phenotypes, including nuclear morphological abnormalities. It was also discovered that the 1,25D axis regulates LMNA gene expression, as well as expression of DNA repair factors. The 1, 25 D dramatically reduces progerin production in HGPS cells and helps with two key factors for the genome integrity. Due to these results vitamin D axis comes out as a new target for the treatment of HGPS. Since progerin expression increases as people age, maintaining vitamin D signaling could help keep the levels of progerin correct during the physical aging of HGPS