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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

From: Specific localization of nesprin-1-α2, the short isoform of nesprin-1 with a KASH domain, in developing, fetal and regenerating muscle, using a new monoclonal antibody

  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
  1. Results expressed as: Mean ± SD (n), “n” = number of repeat measurements. nd = Not detected