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

@article{Korf2008HutchinsonGilfordPS,
  title={Hutchinson-Gilford progeria syndrome, aging, and the nuclear lamina.},
  author={B. Korf},
  journal={The New England journal of medicine},
  year={2008},
  volume={358 6},
  pages={
          552-5
        }
}
  • 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. 
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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.
TLDR
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
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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
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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
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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
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