As depicted in the studies conducted by Kris and his co-workers (2006), this segmental premature aging disease is caused by Hutchinson-Gilford Progeria syndrome (HGPS), named after the two scientists who discovered it in 886. Travis (2003) describes that Children with progeria are usually diagnosed 6 months to a year after birth when their physical development starts to lag. They rarely grow taller than 4 feet, and their heads are oversized for their bodies. The children become bald and have skin problems such as scleroderma. While their mental development is normal, children with progeria rapidly develop atherosclerosis and die, on average, at the age of 3. Balding of the head and narrowing of eyebrows are observed, along with sunken eyes, a bead-like nose, and prominent head veins. They are observed to die of the same causes as observed in the old, like, cardiac arrest, high blood pressure, and are prone to have dislocated or loose hip joints, with atherosclerosis, as observed by Mazereew (2007).
The discovery of the gene that causes this fatal disease was discovered only in the recent past when a group of scientists working in the Progeria research foundation in the year 2003 as cited by many scientists and published in Nature, science, and many prestigious journals, (Maze
reew, 2007). This promising revelation revolutionized and excited the scientific community, as a ray of hope was seen in curing or reversing this mutation, once the gene was identified.
As reported by Shurong (2005), Progeria is caused by a de novo single point mutation, by which the structural and mechanical properties of the nuclear lamina are altered. Specifically, a mutation in the Lamin A and C regions is observed due to the single point deletion of the nucleotide array. In his study, Shurong describes that Lamin A protein is observed to be the structural scaffolding of the nucleus that holds it together, and is also involved in gene expression and DNA replication.
A formidable study was conducted by Mark and his coworkers (2007) demonstrating the new approaches to Progeria, in which he shows by experimentation that out of the 664 amino acids being translated onto mRNA, the prelamin gene at exon undergoes single nucleotide substitution, such that GGC becomes GGT at position 824. He further explains in the paper that this mutation does not alter the protein sequence, as it is a silent mutation; however, it results in the deletion of a 50- nucleotide stretch of the exon. This missing chain sequence causes the lethal disease by shrinking the laminar membrane of the nuclei.