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. 2010 Nov 15;120(12):4220–4235. doi: 10.1172/JCI43653

Figure 4. Histological features similar to SEPN1-related myopathies are associated with reduced selenoprotein N expression.

Figure 4

Muscle biopsy confirmed histological appearances similar to those found in a patient harboring a known SEPN1 mutation. Sections of quadriceps from P1 were stained with (A) H&E, showing 39% myofibers with internally located nuclei; (B) ATPase (pH 4.6), showing predominance of dark staining Type 1 fibers (~80%) and absence of type 2B fibers; and (C) NADH-TR, revealing occasional minicores (arrow) and a rare atrophic fiber. Comparable sections from a SEPN1 mutation carrier are shown (D–F). Original magnification, ×10 (A and D); ×5 (B and E); ×20 (C and F). (G) Reduced SELN expression in fibroblasts from P1 and P2, comparable to cells from a known RSMD1 subject. Whole cell lysates of primary skin fibroblasts from P1 and P2, control subjects (C1–C3), and a RSMD1 patient with a known SEPN1 mutation were Western blotted for SELN expression, with GAPDH as a loading control. Arrow denotes the specific SELN band.