progerin
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Pathology
- truncated form of lamin A involved in Hutchinson-Gilford progeria syndrome
Genetics
- progerin is most often generated by a silent point mutation (C1824T) within exon 11 of the LMNA gene
- the C1824T mutation activates a cryptic splice site & gives rise to a form of lamin A with a deletion of 50 amino acids near the C-terminus
- ~80% of Hutchinson-Gilford progeria syndrome cases are heterozygous for the C1824T point mutation
Pharmacology
- inhibition of farnesyltransferase with lonafarnib (Sarasar) may delay mortality in children with progeria[2]
More general terms
References
- ↑ Wikipedia: Progerin http://en.wikipedia.org/wiki/Progerin
- ↑ 2.0 2.1 Gordon LB, Shappell H, Massaro J et al Association of Lonafarnib Treatment vs No Treatment With Mortality Rate in Patients With Hutchinson-Gilford Progeria Syndrome. JAMA. 2018;319(16):1687-1695 PMID: https://www.ncbi.nlm.nih.gov/pubmed/29710166 https://jamanetwork.com/journals/jama/fullarticle/2679278?
Hisama FM, Oshima J. Precision Medicine and Progress in the Treatment of Hutchinson-Gilford Progeria Syndrome. JAMA. 2018;319(16):1663-1664. PMID: https://www.ncbi.nlm.nih.gov/pubmed/29710145 https://jamanetwork.com/journals/jama/fullarticle/2679255