PMC3601980_01
Rectal biopsy. (A) "Foamy" cells between the mucosa and submucosal layers of rectal biopsy. 40x magnification. (B-D) Transmission electron microscopy revealed cells with increased number of lysosomes filled with storage material (3500x, 5600x, and 8900x, respectively).
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F1
Rectal biopsy revealed the presence of "foamy" cells between the mucosa and submucosal layers, which were likely storage-filled ganglion cells (Fig. 1A). Transmission electron microscopy of this tissue revealed similar cells with enlarged lysosomes filled with storage material (Fig. 1B).
Late-onset of miglustat treatment does not rescue muscle weakness or motor unit number estimate values. Left knee extension myometry and MUNEs showed progressive decline for over 60 weeks after initiation of miglustat treatment.
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F2
Left knee extension myometry and MUNEs also showed progressive decline (Fig. 2).
Western blot analysis of cultured fibroblast lysates incubated with rabbit anti-human Hex A antibody as previously described. Lanes 1-3: normal controls. Lane 4: infantile TSD patient. Lanes 5-7: infantile-onset SD patients and lane 8: our proband. The proband produced an estimated 5% of normal beta-m levels and had a noticeable increase in alpha/beta-precursors. alpha-m = mature alpha subunit; beta-m = mature beta subunit; alpha/beta-p = alpha and beta precursors. Micrograms of protein per lane is as noted. MUG (nm/hr/mg)=nanomoles MUG catalyzed per hour per milligram lysate. MUGS (nm/h/mg)=nanomoles MUGS catalyzed per hour per milligram lysate. E2=x102, E3=x103, E4=x104.
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F3
Protein assays of the proband's cultured fibroblasts revealed the presence of a large amount of unmodified or misfolded beta-subunit in its precursor form, as well as a small amount of fully processed, mature wild-type protein (Fig. 3).