Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy
J. Clin. Invest. Joachim Schessl, et al. 118:904 doi:10.1172/JCI34450 [
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Figure 1General histology, menadione-NBT stain and selected MS/MS spectra of FHL1. (
A and
B) H&E stain of the muscle biopsy of patient 1 with evident intracytoplasmic inclusions (
A, arrows) and menadione-NBT staining of normal muscle and of muscle biopsy sections from patients 1 and 2 (
B) demonstrating positive staining of reducing bodies in both biopsies (arrows). (
C) MS/MS spectra with at least 1 continuous y ion or b ion series of greater than 5 residues. (
D) Amino acid sequence of human FHL1. FHL1 peptide fragments identified in reducing bodies using MS are shown in blue, localizations of the mutations in the patients in red. (
E) Immunoblot analysis of FHL1 in muscle biopsy material from patients 1 and 2. There is a 2.7-fold higher protein content of FHL1 (arrow) in patient 1 and a slightly higher FHL1 protein content in patient 2. Densitometry normalized to GAPDH. *
P < 0.001.
