Abnormal expressions of the subunits of the UDP-N-acetylglucosamine: lysosomal enzyme, N-acetylglucosamine-1-phosphotransferase, result in the formation of cytoplasmic vacuoles resembling those of the I-cells

J Mol Med (Berl). 2007 Apr;85(4):351-60. doi: 10.1007/s00109-006-0128-3. Epub 2006 Dec 8.

Abstract

Defects in the multimeric enzyme, UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GNPT), result in the diseases of mucolipidosis (ML). This enzyme generates the mannose 6-phosphate residues on newly synthesized lysosomal enzymes for the efficient receptor-mediated transport to lysosomes. The enzyme contains alpha/beta and gamma subunits. Mutations in the alpha/beta subunit result in the classical ML II and IIIA, while defects in the gamma subunit results in the clinically milder ML IIIC. I-cells, a distinct histological feature characterized by the presence of abnormal cytoplasmic vacuoles, are detected in many cell types, most noticeably, in ML II patients. In this study, we investigated the interactions of the alpha/beta and gamma subunits in the pathogenesis of I-cells. We noted low and deranged alpha/beta subunit expressions in human mucolipidosis cell lines. Unexpectedly, high gamma subunit expressions were also observed. In normal mouse fibroblasts, when alpha/beta subunit was suppressed, abnormal cytoplasmic vacuoles were induced, and up-regulation of the gamma subunit was also observed. On the other hand, suppressing the gamma subunit resulted in biphasic responses of the alpha/beta subunit, while abnormal cytoplasmic vacuoles were not formed, regardless of the expression levels of the alpha/beta subunit. Our data suggest reciprocal feedback mechanisms between alpha/beta and the gamma subunits. A fine balance of the expressions of these subunits may play an important role in the formation of I-cells in this group of lysosomal storage disorders.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Culture Techniques
  • Cell Line
  • Gene Expression Regulation, Enzymologic / physiology*
  • Humans
  • Lysosomes / enzymology*
  • Mucolipidoses / enzymology
  • Transferases (Other Substituted Phosphate Groups) / genetics
  • Transferases (Other Substituted Phosphate Groups) / metabolism*
  • Vacuoles

Substances

  • Transferases (Other Substituted Phosphate Groups)
  • UDP-N-acetylglucosamine-lysosomal-enzyme-N-acetylglucosaminephosphotransferase