Hutchinson-Gilford progeria syndrome (HGPS, progeria) is an extremely rare premature aging disorder affecting children, with a disease incidence of ∼1 in 18 million individuals. HGPS is usually caused by a de novo point mutation in exon 11 of the LMNA gene (c.1824C>T, p.G608G), resulting in the increased usage of a cryptic splice site and production of a truncated unprocessed lamin A protein named progerin. Since the genetic cause for HGPS was published in 2003, numerous potential treatment options have rapidly emerged. Strategies to interfere with the post-translational processing of lamin A, to enhance progerin clearance, or directly target the HGPS mutation to reduce the progerin-producing alternative splicing of the LMNA gene have been developed. Here, we give an up-to-date resume of the contributions made by our and other research groups to the growing list of different candidate treatment strategies that have been tested, both in vitro, in vivo in mouse models for HGPS and in clinical trials in HGPS patients.
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Cover Image
Cryo-electron microscopy density map of a Cowpea Mosaic virus (CPMV) empty virus-like particle (eVLP) at 2.7 Å resolution (EMD-3952). The large (L) subunit is displayed in green and the small (S) subunit in blue. Five S subunits interact to form pronounced turrets at the 5-fold axis. Here we show a view down a two-fold axis. The eVLP was produced by transient co-expression in plants of the precursor of the L and S subunits (VP60) and the virus-encoded protease (24K) required for its processing. For further details, please see article by Lomonossoff et al, pages 1263–1269
Emerging candidate treatment strategies for Hutchinson-Gilford progeria syndrome Available to Purchase
Charlotte Strandgren, Gwladys Revêchon, Agustín Sola Carvajal, Maria Eriksson; Emerging candidate treatment strategies for Hutchinson-Gilford progeria syndrome. Biochem Soc Trans 15 December 2017; 45 (6): 1279–1293. doi: https://doi.org/10.1042/BST20170141
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