Fig. 4: Net39 is downregulated in EDMD.

a Illustration of Lamin A/C protein domains highlighting specific mutations in three Emery–Dreifuss muscular dystrophy (EDMD) patients. In the Lamin A/C protein domains, pink indicates head region, yellow denotes rod domains, blue shows Ig fold, and gray indicates the tail regions of Lamin C and pre-Lamin A. b Western blot analysis of human muscle biopsies from healthy (control) individuals and EDMD patients showing NET39, LMNA, and LEMD2 protein expression. Histone H3 (H3) was used as a nuclear loading control. c Densitometry of western blots shown in b was performed and the ratios of LEMD2/H3 (p = 0.2903) (left), NET39/H3 (middle) (* indicates p = 0.0199), and LMNA/H3 (right) (p = 0.3454) were quantified. n = 3 biologically independent samples. Data are presented as mean ± SEM values. Statistical comparisons between groups were evaluated by unpaired and two-sided Student’s t test. d qRT-PCR analysis of Net39 transcript in control and EDMD patient biopsy samples. Net39 mRNA expression in patient samples is normalized to its expression in control samples. * indicates p = 0.0445. n = 3 biologically independent samples. Data are presented as mean ± SEM values. Statistical comparisons between groups were evaluated by unpaired, one-tailed Student’s t test. Source data are provided as a Source data file.