Research Paper Volume 10, Issue 7 pp 1758—1775

Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies

Figure 3. LMNA mutations in progeria patients. The diagram shows the structure of lamin A. It consists of globular head domain, linker regions, α-helical coiled coil domain and globular tail domain. Locations of the progeria LMNA mutations in this study were shown with molecular mechanism of mutant lamin A protein and clinical phenotype, as previously reported in [34] (p.Met540Thr) [29], (c.1824C>T) [30], (c.1968+1G>A) [31], (c.1968+2T>C), and [36] (c.2968G>A and c.1968+5G>A). Δ50 indicates the region of deletion in progerin, also present in ZMPSTE24 mutant progeria [32]. Photos were reproduced with permission.