Progeria Research Paper

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Lévy emphasized that further research on more HGPS patients is needed to determine all its possible causes.

"HGPS is an exceedingly rare disorder, and it's difficult to explore a lot of patients in our studies....

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A France-based research team has discovered the gene responsible for Hutchinson-Gilford Progeria, a disease whose young victims age five to ten times faster than normal.

Pinpointing the gene is a critical starting point for developing therapies for the disorder and programs to screen individuals for the defective gene, according to the researchers.Within the gene, they are interspersed with segments called introns.Before a messenger molecule can carry a copy of the genetic instructions over to the cell's protein-construction site, a special splicing system chops out the molecule's introns, so that it delivers only a string of exons.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.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.Stewart at the National Cancer Institute in Frederick, MD.Pierre Cau is also at Hôpital Conception, in Marseille.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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