P5.34 Alternative splicing of lamin A leads to age-dependent accumulation of progerin transcript in normal human muscle and sporadic IBM

Y.B Luo,V Fabian,R Johnsen,S Fletcher,S Wilton,F Mastaglia

doi:10.1016/j.nmd.2011.06.1063

P5.34 Alternative splicing of lamin A leads to age-dependent accumulation of progerin transcript in normal human muscle and sporadic IBM

Y.B Luo, V Fabian + Show 4 more

https://doi.org/10.1016/j.nmd.2011.06.1063

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Journal: Neuromuscular disorders : NMD	Publication Date: Sep 10, 2011
Citations: 2

Affiliation: Western University, Royal Perth Hospital, University of Western Australia

#Hutchinson-Gilford Progeria Syndrome #Limb Girdle + Show 8 more

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Abstract

Mutations in the lamin A gene (LMNA) cause limb girdle muscular dystrophies (EDMD2 and LGMD1B) and dilated cardiomyopathy as well as the Hutchinson-Gilford progeria syndrome (HGPS) of premature aging. In HGPS a de novo silent mutation at codon 608 activates an alternative splice site in exon 11 resulting in an internally truncated mRNA (Δ150 bases) and accumulation of a shorter lamin A isoform missing 50 amino acids, named progerin. Expression of progerin at low levels also occurs normally with aging in skin, liver and heart but has not previously been investigated in skeletal muscle.

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