Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency

作者：Petrini S^*; Tessa A; Stallcup WB; Sabatelli P; Pescatori M; Giusti B; Carrozzo R; Verardo M; Bergamin N; Columbaro M; Bernardini C; Merlini L; Pepe G; Bonaldo P; Bertini E

来源：Molecular and Cellular Neuroscience, 2005, 30(3): 408-417.

DOI：10.1016/j.mcn.2005.08.005

NG2, the rat homologue of the human melanoma chondroitin sulfate proteoglycan (MCSP), is a ligand for collagen VI (COL6). We have examined skeletal muscles of patients affected by Ullrich scleroatonic muscular dystrophy (UCMD), an inherited syndrome caused by COL6 genes mutations. A significant decrease of NG2 immunolabeling was found in UCMD myofibers, as well as in skeletal muscle and cornea of COL6 null-mice. In UCMD muscles, truncated NG2 core protein isoforms were detected. However, real-time RT-PCR analysis revealed marked increase in NG2 mRNA content in UCMD muscle compared to controls. We hypothesize that NG2 immunohistochemical and bio-chemical behavior may be compromised owing to the absence of its physiological ligand. MCSP/NG2 proteoglycan may be considered an important receptor mediating COL6-sarcolemma interactions, a relationship that is disrupted by the pathogenesis of UCMD muscle.

• 出版日期2005-11