Progeria, meaning “prematurely old” in Greek, is a rare genetic disorder in which young children appear to age rapidly and is caused by a mutation in the LMNA gene. Around 1 in 8 million babies are born with Progeria worldwide. The progression of this disease is comparable to aging, at a rate approximately six to eight times faster than normal aging. Symptoms of this disease are present from early childhood and include stunted growth and skin conditions. Later, a distinctive appearance, including a small face, pinched nose, hair loss, and fragile body, appears. Over time, this disease causes cardiovascular problems, and patients usually die from heart disease in their early adolescence. Say no to plagiarism. Get a tailor-made essay on “Why violent video games should not be banned”?Get the original essayProgeria is caused by a mutation in the nuclear blade. The lamins form the nuclear lamina, which constitutes the inner face of the nuclear envelope and the peripheral chromatin. There are four main lamin proteins: lamins A, C, B1 and B2. These proteins contribute to many nuclear processes such as chromatin structure, regulation of gene expression, apoptosis, cell cycle regulation, nuclear migration, and protein degradation. Because these proteins affect many diverse cellular functions, mutations can cause widespread problems. Problems arise when there is a mutation in the LMNA gene. This gene, located on the first chromosome, generally produces Lamin. A de novo point mutation (i.e. a mutation that occurs spontaneously and is not transmitted) replaces cytosine with thymine at position 1824 of the LMNA gene. The mutation creates a DNA splice site where one usually does not exist. This creates a problem with DNA transcription and changes exon 11. The change in the DNA information ultimately produces a mutant protein, known as Progerin, which is lipidated or gains hydrophobic molecules. This protein is then abnormally incorporated into the nuclear lamina and the nucleus becomes unstable with the addition of this malformed protein. Collecting defective proteins can lead to mechanical problems, slide overgrowth or loss, and DNA damage. By changing a nucleotide in the genetic code, an essential protein cannot be produced, changing the organism drastically. Ongoing research into the causes and cures of Progeria may not only help those affected by this disease, but also those suffering from closely related conditions such as Emery. -Dreifuss muscular dystrophy and restrictive dermopathy. Another advantage of this research also concerns the information obtained on cardiovascular diseases and normal aging. In 2003, Swedish scientists discovered the mutant protein Progerin, both in Progeria patients and in normal cells, but at varying levels. As normal cells aged, Progerin accumulated in these cells. This evidence shows a direct link between Progeria, this mutated protein, and old age. The study of Progeria can give us valuable information about the natural aging process. One of the hopes for the treatment of Progeria is the inhibition of the process of protein farnesylation or lipidation. Through the use of farnesyltransferase inhibitors (FTI), damage to the nuclear lamina can be blocked. These cells could even be repaired thanks to this treatment, which constitutes a,.