Hutchinson-Gilford progeria syndrome
Pollex RL, Hegele RA.
Robarts Research Institute,
London, Ontario, Canada.
Clin Genet. 2004 Nov;66(5):375-81.


Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder that causes premature, rapid aging shortly after birth. Recently, de novo point mutations in the Lmna gene have been found in individuals with HGPS. Lmna encodes lamin A and C, the A-type lamins, which are an important structural component of the nuclear envelope. The most common HGPS mutation is located at codon 608 (G608G). This mutation creates a cryptic splice site within exon 11, which deletes a proteolytic cleavage site within the expressed mutant lamin A. Incomplete processing of prelamin A results in nuclear lamina abnormalities that can be observed in immunofluorescent studies of HGPS cells. Mouse models, such as Lmna knockout, Zmpste24 knockout, and Lmna L530P knockin will help the study of progeria. Lmna mutations have also recently been found in patients with atypical forms of progeria. The discovery of the HGPS mutations brings the total number of diseases caused by mutant Lmna to nine, underscoring the astonishing spectrum of laminopathies. Future research into HGPS could also provide important clues about the general process of aging and aging-related diseases.
'Artificial' evolution
Genetic enhancement
Germline genetic engineering
Congenital insensitivity to pain
Mood genes and human nature
Preimplantation genetic diagnosis
A life without pain? Hedonists take note'
'The Principle of Procreative Beneficience'
Gene therapy and performance enhancement
Transhumanism (H+): toward a Brave New World?
Werner's and Hutchinson-Gilford progeria syndromes

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The Good Drug Guide
The Abolitionist Project
The Hedonistic Imperative
The Reproductive Revolution
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Critique of Huxley's Brave New World