Progeria Research Paper

Progeria Research Paper-35
Lévy's team determined that the LMNA mutation seems to jar the splicing machinery, in such a way that the end of exon 11 is cut off.This leads to the production of abnormal Lamin A proteins, although it doesn't affect Lamin C proteins.

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AAAS was founded in 1848, and serves some 265 affiliated societies and academies of science, serving 10 million individuals.

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

The mechanisms underlying the differences among laminopathies is a mystery.

"We don't know enough about how lamins function to think in terms of therapy yet.

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.

For some reason, which the authors don't understand yet, the mutation only leads to abnormal Lamin A production in some cells, but not all of them.

The mutation is a "dominant mutation," meaning that individuals who inherit a defective copy of the gene from either parent develop HGPS.


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