Progeria Research Paper

Baldness, aged-looking skin, dwarfism, and a small face and jaw relative to head size are outwardly visible characteristics of the disorder. Together with Lamin B, these proteins are woven into a wallpaper-like meshwork, lining the inside of the membrane around the cell's nucleus.Children with HGPS also have health problems typically associated with the elderly, including joint stiffness, hip dislocations, cardiovascular problems, and atherosclerosis. During cell division, the membrane breaks up, allowing the nucleus to split in two.

Baldness, aged-looking skin, dwarfism, and a small face and jaw relative to head size are outwardly visible characteristics of the disorder. Together with Lamin B, these proteins are woven into a wallpaper-like meshwork, lining the inside of the membrane around the cell's nucleus.Children with HGPS also have health problems typically associated with the elderly, including joint stiffness, hip dislocations, cardiovascular problems, and atherosclerosis. During cell division, the membrane breaks up, allowing the nucleus to split in two.

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Science has the largest paid circulation of any peer-reviewed general science journal in the world, with an estimated total readership of one million.

Their findings appear in the journal Science, published by the American Association for the Advancement of Science.

"Without knowing what caused this type of progeria, we had little idea how we might someday treat it.

I think we'll do it in the next ten years, but it will be difficult," Lévy said.

The authors studied the DNA sequences of LMNA genes from patients affected with HGPS.Disorders caused by defective lamin proteins are collectively known as laminopathies. When Lévy's team began their study, another group had just implicated the LMNA gene in a laminopathy called mandibulo-acral dysplasia phenotype, or MAD."I thought ok, we really have to look for mutations in lamin gene for progeria," Lévy said.This study has been performed on very few cases, so our findings needs further confirmation, of course," he said.Lévy's coauthors are Annachiare De Sandre-Diovannoli, Pierre Cau, Claire Navarro, and Irène Boccaccio of Faculté de Médecine de la Timone, (Inserm laboratory U491), in Marseille, France; Rafaëlle Bernard at Hôpital Timone in Marseille, France; Jeanne Amiel, Stanislas Lyonnet, Arnold Munnich, and Martine Le Merrer at Hôpital Necker (Inserm U393) in Paris, France; and Colin L.Identifying the gene responsible for the disease is a critical step toward possible therapies," said author Nicolas Lévy of the Faculté de Médecine de la Timone, (Inserm laboratory U491), and Hôpital d'enfants de la Timone in Marseille, France."Now that researchers in this field have the gene in hand, they can investigate what goes awry in the bodies of children with HGPS, and hopefully find ways to prevent or reverse those changes," said Stella Hurtley, a Science editor working in Cambridge, U. Though Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare disease -- affecting one in an estimated four to eight million children, according to Lévy -- its effects are quite recognizable. The mutation Lévy and his colleagues discovered occurs in the LMNA gene, which contains the "blueprints" for constructing two proteins, called Lamin A and Lamin C.The non-profit AAAS (org) is open to all and fulfills its mission to "advance science and serve society" through initiatives in science policy; international programs; science education; and more.For the latest research news, log onto Eurek Alert!They found just one abnormality, the substitution of a single DNA "letter," or "base," within a segment called exon 11.Exons are the DNA segments that contain information for producing a particular protein.