Normal and aberrant splicing of LMNA

The LMNA gene is ubiquitously expressed and is alternatively spliced to give rise to the nuclear lamina proteins lamin A/C, as well as the truncated product progerin that accumulates in the Hutchinson-Gilford progeria syndrome. Mutations in LMNA can result in a variety of clinical phenotypes, which may involve the skin or skeletal muscles or cause more widespread involvement of other tissues. The review discusses the regulation of LMNA splicing, a subgroup of LMNA mutations that affect splicing of LMNA pre-mRNA, and the manipulation of LMNA splicing using antisense oligonucleotides and its therapeutic potential for treatment of this group of laminopathies. (By Professor Steve Wilton, http://jmg.bmj.com/content/early/2014/01/23/jmedgenet-2013-102119 )

(Visited 71 times, 1 visits today)