Hutchinson-Gilford progeria syndrome, aging, and the nuclear lamina.

  title={Hutchinson-Gilford progeria syndrome, aging, and the nuclear lamina.},
  author={B. Korf},
  journal={The New England journal of medicine},
  volume={358 6},
  • B. Korf
  • Published 2008
  • Medicine
  • The New England journal of medicine
Dr. Bruce Korf describes the effects of the LMNA mutation in the Hutchinson–Gilford progeria syndrome. He writes that this syndrome may teach us about mechanisms of one of the most common conditions — old age. 
Progeria and Progeroid Syndromes (Premature Ageing Disorders)
Progeria (from the Greek word “geras” meaning “old Age”) consists on the precocious and rapid ageing and the early onset of age-related complications such as joint restriction and cerebral andExpand
Hutchinson–Gilford Progeria Syndrome: A Premature Aging Disease
A lot of research is needed to solve this mystery; hopefully, future research on HGPS would provide important clues for progeria and other fatal age-related disorders. Expand
Unraveling the mysteries of aging through a Hutchinson-Gilford progeria syndrome model.
Key regulatory regions on mRNA transcripts governing splicing activity have been exposed using antisense technology, and identification of novel molecular targets have generated optimism for the possibility of finally yielding an effective therapy for slowing the aging process in HGPS patients. Expand
BK channel overexpression on plasma membrane of fibroblasts from Hutchinson-Gilford progeria syndrome
The outward potassium membrane current amplitude and the fluorescence intensity of the BKCa channel probe showed higher values in human dermal fibroblast obtained from patients affected by HGPS if compared to that from healthy young subjects, and appears to correlate with a basic cellular activity such as the replicative boost. Expand
Progeria - A Brief Review
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Rapamycin Reverses Cellular Phenotypes and Enhances Mutant Protein Clearance in Hutchinson-Gilford Progeria Syndrome Cells
The effect of rapamycin, a macrolide antibiotic that has been implicated in slowing cellular and organismal aging, on the cellular phenotypes of HGPS fibroblasts is reported and may offer insights into normal aging as well. Expand
Progeria shows characteristic facial appearance including prominent eyes, thin nose with a beaked tip, thin lips, a small chin, and protruding ears, severe hardening of the arteries beginning in childhood. Expand
Generation of a Hutchinson–Gilford progeria syndrome monkey model by base editing
This monkey model genetically and clinically mimics HGPS in humans, demonstrating that the BE system can efficiently and accurately generate patient-specific disease models in non-human primates. Expand
Rapamycin activates autophagy in Hutchinson-Gilford progeria syndrome
It is found that the causative aberrant protein, progerin, was cleared through autophagic mechanisms when the cells were treated with rapamycin, suggesting a new potential treatment for HGPS and normal aging. Expand
Kan Cao Clearance in Hutchinson-Gilford Progeria Syndrome Cells Rapamycin Reverses Cellular Phenotypes and Enhances Mutant Protein
previous knowledge must be rearranged.'' new notions are continually ''revealed to us in whose light all our −− according to Waugh −− science, as in youth rapamycin analog everolimus in children withExpand


Phenotype and course of Hutchinson-Gilford progeria syndrome.
Clinical investigations confirmed sclerotic skin, joint contractures, bone abnormalities, alopecia, and growth impairment in all 15 patients; cardiovascular and central nervous system sequelae were also documented. Expand
A farnesyltransferase inhibitor improves disease phenotypes in mice with a Hutchinson-Gilford progeria syndrome mutation.
It is suggested that FTIs could be useful for treating humans with HGPS, as treatment with an FTI increased adipose tissue mass, improved body weight curves, reduced the number of rib fractures, and improved bone mineralization and bone cortical thickness. Expand
Human laminopathies: nuclei gone genetically awry
The study of LMNA, its products and the phenotypes that result from its mutation have provided important insights into subjects ranging from transcriptional regulation, the cell biology of the nuclear lamina and mechanisms of ageing. Expand
Lamin A-Dependent Nuclear Defects in Human Aging
It is shown that the same molecular mechanism responsible for HGPS is active in healthy cells, and inhibition of this splice site reverses the nuclear defects associated with aging. Expand
Genomic instability in laminopathy-based premature aging
The results indicate that unprocessed prelamin A and truncated lamin A act dominant negatively to perturb DNA damage response and repair, resulting in genomic instability which might contribute to laminopathy-based premature aging. Expand
Genomic instability in laminopathybased premature aging
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