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What Are the Causes of Progeria?

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  • Written By: Anna B. Smith
  • Edited By: O. Wallace
  • Last Modified Date: 05 December 2016
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The causes of Progeria are abnormalities in the nucleotide structure of the DNA of affected children. These abnormalities are a result of a mutation in the LMNA gene, which is responsible for the production of the proteins which surround the nucleus of the cell. The ultimate structural instability of the nucleus is believed to cause the aging signs experienced by those diagnosed with this syndrome.

Progeria is a genetic disorder that causes premature aging in young children. Children are born with this disease appearing healthy, and begin to slow their normal growth rates between 18 and 24 months of age. Their bodies gradually experience hair and body fat loss. The skin starts to take on an aged appearance as the syndrome advances, and their joints become more stiff, sometimes resulting in hip dislocation. Most children born with this genetic abnormality die of heart disease and stroke around 13 years of age, though a few cases survived until age 20.

A mutation in the LMNA gene is thought to be one of the primary causes of Progeria. The LMNA gene produces the Lamin A protein. This protein is one of the structural backbones that surrounds and provides support to the nucleus of the cell. Doctors and scientists believe that the resultant instability of the nucleus leads to the signs of premature aging.

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The genetic mutation initially manifests itself in one small change in the nucleotides of the patient's DNA. Nucleotides are the building blocks of the chain-like structure that is DNA and are comprised of adenine, guanine, thymine, and cytosine. The change in the nucleotide sequence, which is one of the causes of Progeria, is a substitution of thymine for cytosine in position 1824.

Though the genetic trait for Progeria is dominant, it is not inherited. Children who develop this mutation are not born to parents who have the abnormality. Researchers believe the mutated code that alters the nucleotide sequence may occur in the egg or in one single sperm immediately prior to conception.

Research into the causes of Progeria is ongoing. The genetic abnormality that is believed to cause the rapid aging process was identified in 2003 as a common link shared by a majority of sufferers with the disease. Scientists are not entirely certain how the Lamin A protein relates to overall human aging. No cure exists that adequately slows and reverses the side effects of aging in diagnosed children.

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