Table 2 Relative expression of mRNA of nesprin-1 isoforms and markers of differentiation in cultured human myoblasts and myotubes from patients with pathogenic mutations in Syne1 or LMNA
SYNE-1 E7854X | LMNA L380S | LMNA del.K32 | LMNA R249W | |||||
|---|---|---|---|---|---|---|---|---|
Myoblast | Myotube | Myoblast | Myotube | Myoblast | Myotube | Myoblast | Myotube | |
N1-Giant | 13.9 ± 2.2 (6) | 33.5 ± 5.0 (5) | 102.1 ± 8.8 (5) | 429.5 ± 42.4 (5) | 48.3 ± 9.4 (4) | 161.7 ± 33.6 (5) | 53.4 ± 10.0 (4) | 90.7 ± 19.0 (5) |
P < 0.001 | P < 0.001 | P < 0.001 | P < 0.01 | |||||
N1-β1 | <1 (2) | <1 (2) | 1.0 (2) | <1 (2) | <1 (1) | <1 (1) | <1 (1) | <1 (1) |
N1-β2 | <1 (3) | 1.8 ± 0.6 (4) | 1.2 ± 0.1 (3) | 3.0 (2) | <1 (1) | <1 (1) | <1 (1) | <1 (1) |
N1-α1 | nd (1) | nd (1) | nd (1) | nd (1) | nd (1) | nd (1) | nd (1) | nd (1) |
N1-α2 | <1 (3) | 7.0 ± 4.1 (5) | <1 (4) | 46.8 ± 6.2 (4) | <1 (3) | 40.1 ± 7.8 (4) | <1 (4) | 56.1 ± 11.2 (4) |
P < 0.01 | P < 0.001 | P < 0.001 | P < 0.001 | |||||
CKM | 3 ± 2 (3) | 1290 ± 296 (3) | 3 ± 1 (4) | 1492 ± 206 (3) | <1 (4) | 2346 ± 768 (3) | 2 ± 1 (4) | 1279 ± 320 (4) |
P < 0.005 | P < 0.001 | P < 0.005 | P < 0.001 | |||||
Desmin | 10331 ± 671 (3) | 13038 ± 303 (3) | 4064 ± 673 (6) | 14334 ± 581 (4) | 6084 ± 160 (4) | 16701 ± 1321 (4) | 7952 ± 441 (4) | 11358 ± 231 (4) |
P < 0.005 | P < 0.001 | P < 0.001 | P < 0.001 | |||||