Progeria Syndrome
Progeria
Jessica Perry
Canterbury School of Florida
Progeria is an extremely rare genetic disease which causes young children to age very rapidly. This condition is from the Greek word for old age “geras.” It is estimated that it only affects one in four million newborns throughout the world. A newborn typically will appear normal. Within the year the child’s growth rate decreases and they look shorter and weigh much less than other children around their age. The appearance of these children becomes looking like an older person, such as “baldness, aged-looking skin, a pinched nose, and a small face and jaw relative to head size” (What do we know about heredity and progeria? 2011). There …show more content…
The reason Progeria Research Foundation was started was because not many people knew much about the disease. The foundation is there to help raise awareness, educate and help families, the doctors, and the general public about the disease. Progeria Research Foundation also funds medical research that is specifically aimed at finding the cause. Treatments and cures for this syndrome are more reasons that the foundation funds research for the disease (How PRF was formed). Progeria is an outcome of a fault in the Lamin A(LMNA) gene (Hutchinson-Gilford Progeria Syndrome 2012). The LMNA gene has codes that are for two proteins, Lamin A and Lamin C. These proteins play a big role in stabilizing the inner membrane of a cell’s nucleus. The mutation that results from the deformation causes the Lamin A protein to be abnormal. This abnormality is what makes the cell’s nuclear membrane to be unstable, in a way that could possibly be particularly damaging to tissues that are used for physical force, such as the musculoskeletal and cardiovascular systems (What do we know about heredity and progeria? 2011). It is unknown why this mutation causes expressed aging (Hutchinson-Gilford Progeria Syndrome 2012). The man who discovered the gene for
Jessica Perry
Canterbury School of Florida
Progeria is an extremely rare genetic disease which causes young children to age very rapidly. This condition is from the Greek word for old age “geras.” It is estimated that it only affects one in four million newborns throughout the world. A newborn typically will appear normal. Within the year the child’s growth rate decreases and they look shorter and weigh much less than other children around their age. The appearance of these children becomes looking like an older person, such as “baldness, aged-looking skin, a pinched nose, and a small face and jaw relative to head size” (What do we know about heredity and progeria? 2011). There …show more content…
The reason Progeria Research Foundation was started was because not many people knew much about the disease. The foundation is there to help raise awareness, educate and help families, the doctors, and the general public about the disease. Progeria Research Foundation also funds medical research that is specifically aimed at finding the cause. Treatments and cures for this syndrome are more reasons that the foundation funds research for the disease (How PRF was formed). Progeria is an outcome of a fault in the Lamin A(LMNA) gene (Hutchinson-Gilford Progeria Syndrome 2012). The LMNA gene has codes that are for two proteins, Lamin A and Lamin C. These proteins play a big role in stabilizing the inner membrane of a cell’s nucleus. The mutation that results from the deformation causes the Lamin A protein to be abnormal. This abnormality is what makes the cell’s nuclear membrane to be unstable, in a way that could possibly be particularly damaging to tissues that are used for physical force, such as the musculoskeletal and cardiovascular systems (What do we know about heredity and progeria? 2011). It is unknown why this mutation causes expressed aging (Hutchinson-Gilford Progeria Syndrome 2012). The man who discovered the gene for