Progeria also known as Hutchinson-Gilford Progeria syndrome is an extremely rare genetic disease where a person is born with the characteristics of an aged body. The word Progeria comes from the greek words “pro” meaning premature and “geras” meaning old age. This genetic disease only occurs in an estimated 1 in 8 million individuals, and there are no hereditary factors or environmental factors which affect the cause of progeria. The average life of an individual with Progeria is usually between 13 to 20, and they usually die from atherosclerosis such as heart attacks or strokes similar to that of old persons. Children with progeria appear normal at birth, but during their first two years of life the children age show symptoms of slow growth,
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There are no relevant risk factors associated with Progeria but researchers have discovered that Progeria is caused by a genetic mutation in the LMNA gene which is necessary to produce Lamin A, a protein that helps maintain the structure of the nucleus in a cell. Due to this defection Lamin A cannot do it’s job properly and the nucleus is unstable. When comparing the structure of a normal nucleus and one with progeria, they can easily be distinguished because the shape of a nucleus with the genetic disorder is very deformed and wrinkled, while a normal nucleus is round and smooth. The specific defection occurring during the production of Lamin A is due to a farnesyl group. When the LMNA gene produces Lamin A there is usually a farnesyl group attached to the Lamin A in order to anchor protein on the nuclear rim temporarily. In a normal cell, once the Lamin A is placed on the nuclear rim the farnesyl group breaks off and separates. In a cell of an individual with progeria, the farnesyl group never breaks off thus the abnormal form of Lamin A is called Progerin. Thus, the presence of the permanently attached farnesyl group on the Lamin A is what causes this deformity in the structure of the nucleus therefore creating the aging …show more content…
Treatments for progeria focus on slowing down symptoms such as taking Aspirin daily in order to prevent heart attack or stroke. Other medications like statins help decrease cholesterol levels and anticoagulants prevent blood clots. Hormones may even be used to counter the low weight, height, and muscle mass. Physical therapy is also recommended to strengthen the bones, and help with joint stiffness. A child’s permanent teeth may also protrude too quickly before the baby teeth fall out, therefore, extraction of the primary teeth at an early stage is important to prevent overcrowding. Currently FTI’s and Rapamycin are two drugs under testing as hopeful cures to Progeria. FTI is used to treat cancer but research from tests on mice show that it is capable of reversing the abnormalities of the nucleus. These FTI’s help break apart the progerin that is anchored to the nuclear rim and revert the nucleus back to it’s normal structure. Rapamycin has also been tested to abolish nuclear blebbing, break down the progerin and it’s formation. More clinical tests for these two drugs need to performed before being used as
There are no relevant risk factors associated with Progeria but researchers have discovered that Progeria is caused by a genetic mutation in the LMNA gene which is necessary to produce Lamin A, a protein that helps maintain the structure of the nucleus in a cell. Due to this defection Lamin A cannot do it’s job properly and the nucleus is unstable. When comparing the structure of a normal nucleus and one with progeria, they can easily be distinguished because the shape of a nucleus with the genetic disorder is very deformed and wrinkled, while a normal nucleus is round and smooth. The specific defection occurring during the production of Lamin A is due to a farnesyl group. When the LMNA gene produces Lamin A there is usually a farnesyl group attached to the Lamin A in order to anchor protein on the nuclear rim temporarily. In a normal cell, once the Lamin A is placed on the nuclear rim the farnesyl group breaks off and separates. In a cell of an individual with progeria, the farnesyl group never breaks off thus the abnormal form of Lamin A is called Progerin. Thus, the presence of the permanently attached farnesyl group on the Lamin A is what causes this deformity in the structure of the nucleus therefore creating the aging …show more content…
Treatments for progeria focus on slowing down symptoms such as taking Aspirin daily in order to prevent heart attack or stroke. Other medications like statins help decrease cholesterol levels and anticoagulants prevent blood clots. Hormones may even be used to counter the low weight, height, and muscle mass. Physical therapy is also recommended to strengthen the bones, and help with joint stiffness. A child’s permanent teeth may also protrude too quickly before the baby teeth fall out, therefore, extraction of the primary teeth at an early stage is important to prevent overcrowding. Currently FTI’s and Rapamycin are two drugs under testing as hopeful cures to Progeria. FTI is used to treat cancer but research from tests on mice show that it is capable of reversing the abnormalities of the nucleus. These FTI’s help break apart the progerin that is anchored to the nuclear rim and revert the nucleus back to it’s normal structure. Rapamycin has also been tested to abolish nuclear blebbing, break down the progerin and it’s formation. More clinical tests for these two drugs need to performed before being used as