Introduction
Hutchinson Gilford Progeria Syndrome (HGPS) is a fatal disease that is characterized by the appearance of rapid aging in children. HGPS is rare, affecting roughly 1 in 8 million live births. HGPS can be identified by early symptoms that include slow development, limited growth, alopecia, localized scleroderma, and a distinct facial structure which includes a small face, shallow jaw, and pinched nose. As the disease progresses, new symptoms arise, such as hearing and vision loss, stiff joints, fragile bones, and cardiovascular disease.
Interestingly, this complex disease is caused by just one single mutation in the codon 608 of the lamin A (Lmna) gene which encodes for the proteins lamin A and lamin C. Lamins A and C are proteins that form a filamentous meshwork underlying the innermost layer of the nuclear membrane, referred to as the nuclear lamina (Videk et. al.). The nuclear lamina is responsible for maintaining the structural integrity of the nuclear envelope, which serves as the barrier between the cytoplasm and the nucleus (Buke, B., Stewart CL, et. al.). In HGPS, these lamins are disrupted and cause an accumulation of ‘progerin’ which results in molecular defects leading to abnormally shaped cell …show more content…
Jonathan Hutchinson (1886), and Dr. Hastings Gilford (1897) who first described the syndrome in England in the late 1800’s. (Merideth et. al. 2008; Gilford H. et. al. 1904). This syndrome was given the name Progeria from the Greek root geras, which means “prematurely old,” due to the distinctive senile features that this rapidly aging disease causes (Gilford H. et. al. 1904). Although progeria is believed to affect about 1 in 8 million newborns the true rate value might actually be closer to 1 in 4 million due to unreported or misdiagnosed cases. There are currently an estimated 200-250 children living with Progeria in over 40 countries
Hutchinson Gilford Progeria Syndrome (HGPS) is a fatal disease that is characterized by the appearance of rapid aging in children. HGPS is rare, affecting roughly 1 in 8 million live births. HGPS can be identified by early symptoms that include slow development, limited growth, alopecia, localized scleroderma, and a distinct facial structure which includes a small face, shallow jaw, and pinched nose. As the disease progresses, new symptoms arise, such as hearing and vision loss, stiff joints, fragile bones, and cardiovascular disease.
Interestingly, this complex disease is caused by just one single mutation in the codon 608 of the lamin A (Lmna) gene which encodes for the proteins lamin A and lamin C. Lamins A and C are proteins that form a filamentous meshwork underlying the innermost layer of the nuclear membrane, referred to as the nuclear lamina (Videk et. al.). The nuclear lamina is responsible for maintaining the structural integrity of the nuclear envelope, which serves as the barrier between the cytoplasm and the nucleus (Buke, B., Stewart CL, et. al.). In HGPS, these lamins are disrupted and cause an accumulation of ‘progerin’ which results in molecular defects leading to abnormally shaped cell …show more content…
Jonathan Hutchinson (1886), and Dr. Hastings Gilford (1897) who first described the syndrome in England in the late 1800’s. (Merideth et. al. 2008; Gilford H. et. al. 1904). This syndrome was given the name Progeria from the Greek root geras, which means “prematurely old,” due to the distinctive senile features that this rapidly aging disease causes (Gilford H. et. al. 1904). Although progeria is believed to affect about 1 in 8 million newborns the true rate value might actually be closer to 1 in 4 million due to unreported or misdiagnosed cases. There are currently an estimated 200-250 children living with Progeria in over 40 countries