The rare disease known as Hutchinson-Gilford Progeria Syndrome (HGPS) is a genetic disorder that causes newborn children to age more rapidly than normal. HGPS belongs to a group of progeroid syndromes that can classified as segmental disorder that affect many tissues and organs and display symptoms that resemble physiological aging. This disorder unfortunately results in a short life span for those affected. It is reported that it occurs about 1 in 8 million births around the globe. (Arancio, Pizzolanti, Genovese, Pitrone, & Giodarno, 2014). Because HGPS is so rare, it is extremely difficult for research on the biology of this disease to be conducted. The cause of HGPS is due to mutations to the LMNA gene, which is responsible for coding a
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These cellular defects lead to early cell senescence in HGPS affected individuals. Despite it’s unfavorable effects, the buildup of progerin is an event that happens normally over time as one cells’ age. As one ages, there are infrequent occasions where transcripts of lamin-a can get potentially spliced and result in producing progerin (Vidak & Foisner, 2016). The phenotypic effects of HGPS are similar to those seen as one becomes elderly, therefore HGPS can also be used as a model to better study the complexities behind physiological aging in addition to better understanding the underlying mechanisms behind HGPS. The significance behind studying HGPS is important in that it can potentially help provide a better understanding of the process of normal physiological aging in humans. Investigating the mechanisms behind LMNA and the deleterious effects the gene causes when mutated, resulting in HGPS, can potentially help discover methods into reducing the accumulation of progerin in affected individuals of HGPS and, consequently, find ways into slowing down the process of aging in …show more content…
Studying the cellular mechanisms that connect the accumulation of progerin to various cellular abnormalities can lead to discovering novel methods to help treat HGPS individuals and improve their quality of life. When studying the underlying cellular mechanisms, HGPS cells are comparable to those who are elderly as it can be seen that progerin accumulates in healthy individuals as they age. Cells expressing progerin show premature senescence and altered function and structure of cellular nuclei. These abnormalities result in increased risk of atherosclerosis due to HGPS individuals accumulating defects in their vascular smooth muscle cells. These aging effects seen in HGPS are synonymous to those seen in normal physiological aging; using HGPS cell helps provide an approach to better understand how physiological aging of cells work. So far, studies using pluripotent stem cells have provided methods to investigate the questions of how progerin accumulation leads to faster cell senescence and potential ways to treat HGPS individuals. Discovering a way to reverse the deleterious effects of HGPS on cellular mechanisms could also potentially lead to finding the answer to reverse the negative effects of old age. In short, detailed study of HGPS and the mutations surround
These cellular defects lead to early cell senescence in HGPS affected individuals. Despite it’s unfavorable effects, the buildup of progerin is an event that happens normally over time as one cells’ age. As one ages, there are infrequent occasions where transcripts of lamin-a can get potentially spliced and result in producing progerin (Vidak & Foisner, 2016). The phenotypic effects of HGPS are similar to those seen as one becomes elderly, therefore HGPS can also be used as a model to better study the complexities behind physiological aging in addition to better understanding the underlying mechanisms behind HGPS. The significance behind studying HGPS is important in that it can potentially help provide a better understanding of the process of normal physiological aging in humans. Investigating the mechanisms behind LMNA and the deleterious effects the gene causes when mutated, resulting in HGPS, can potentially help discover methods into reducing the accumulation of progerin in affected individuals of HGPS and, consequently, find ways into slowing down the process of aging in …show more content…
Studying the cellular mechanisms that connect the accumulation of progerin to various cellular abnormalities can lead to discovering novel methods to help treat HGPS individuals and improve their quality of life. When studying the underlying cellular mechanisms, HGPS cells are comparable to those who are elderly as it can be seen that progerin accumulates in healthy individuals as they age. Cells expressing progerin show premature senescence and altered function and structure of cellular nuclei. These abnormalities result in increased risk of atherosclerosis due to HGPS individuals accumulating defects in their vascular smooth muscle cells. These aging effects seen in HGPS are synonymous to those seen in normal physiological aging; using HGPS cell helps provide an approach to better understand how physiological aging of cells work. So far, studies using pluripotent stem cells have provided methods to investigate the questions of how progerin accumulation leads to faster cell senescence and potential ways to treat HGPS individuals. Discovering a way to reverse the deleterious effects of HGPS on cellular mechanisms could also potentially lead to finding the answer to reverse the negative effects of old age. In short, detailed study of HGPS and the mutations surround