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Rapamycin Offers Potential Treatment for HGPS

Cellular defects in Hutchinson-Gilford Progeria Syndrome fibroblasts improve with rapamycin

THURSDAY, June 30 (HealthDay News) -- Treatment with rapamycin abolishes characteristic nuclear defects, prolongs cellular life span, and improves the turnover of progerin in cultured Hutchinson-Gilford Progeria Syndrome (HGPS) fibroblasts cells and may be a potential treatment for children with this genetic disorder, according to a study published in the June 29 issue of Science Translational Medicine.

Kan Cao, Ph.D., from the National Institutes of Health in Bethesda, Md., and colleagues investigated the effects of rapamycin on cultured fibroblasts from three patients with HGPS and four controls. The cells were given a fresh minimal essential medium containing 0.68 µM rapamycin or the same volume of vehicle every other day for a minimum of two weeks. Treatment continued for 100 days until cellular senescence neared. The primary outcomes studied were the effects on nuclear blebbing, cell senescence, and progerin levels in HGPS cells.

The investigators found that treatment with rapamycin was associated with abolished nuclear blebbing, delayed cell senescence, decreased progerin levels, and increased breakdown of progerin in the HGPS cells. Treatment with rapamycin was also associated with reduced formation of insoluble protein aggregates and clearance via autophagic mechanisms in normal fibroblasts.

"We have shown that rapamycin abolishes characteristic nuclear defects, markedly prolongs cellular life span, and enhances the turnover of progerin in cultured HGPS fibroblasts," the authors write.

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