Progerin

Progerin is most often generated by a sporadic single point nucleotide polymorphism c.1824 C>T (GGC -> GGT, p.Gly608Gly) in the gene that codes for matured Lamin A.

Approximately 90% of all Hutchinson–Gilford progeria syndrome cases are heterozygous for this deleterious single nucleotide polymorphism within exon 11 of the LMNA gene causing the post-translational modifications to produce progerin.

[6] Also, overexpression of progerin is correlated with an increase in non-homologous end joining relative to homologous recombination among those DNA double-strand breaks that are repaired.

These findings suggest that the normal untruncated nuclear lamina has an important role in the proper repair of DNA double-strand breaks.

Researchers are exploring lonafarnib (a farnesyltransferase inhibitor) as a potential pharmacological therapy against the negative effects of Progerin on nuclear morphology in HGPS.