Unusual laminin α2 processing in myoblasts from a patient with a novel variant of congenital muscular dystrophy

Giovanna Lattanzi, Francesco Muntoni, Patrizia Sabatelli, Stefano Squarzoni, Nadir Mario Maraldi, Vittoria Cenni, Marcello Villanova, Marta Columbaro, Luciano Merlini, Sandra Marmiroli

Research output: Contribution to journalArticle

Abstract

We recently described a novel congenital muscular dystrophy (CMD) syndrome characterized by mental retardation, microcephaly, and partial merosin deficiency on muscle biopsy. Linkage analysis excluded involvement of the known CMD loci. We now report on a study performed on the differentiation of cultured myoblasts from one patient affected by this condition to evaluate the potential to form myotubes and merosin processing in these cells. The differentiation rate was comparable to controls and myotubes were stable in culture. Biochemical analysis showed the expected 80-kDa merosin subunit in myoblasts. However, a shifted 60-kDa protein was detected in myotubes. Matrix-metalloprotoinases (MMPs) zymography showed increased gelatinolytic activity, and immunoblotting identified an increased amount of membrane-type 1 matrix-metalloproteinase in pathological myotube preparations. Our results show that these CMD-derived myotubes contain a low molecular weight meresin. They further suggest that an altered regulation of MMPs can be involved in basal lamina damage. (C) 2000 Academic Press.

Original languageEnglish
Pages (from-to)639-642
Number of pages4
JournalBiochemical and Biophysical Research Communications
Volume277
Issue number3
DOIs
Publication statusPublished - Nov 2 2000

Keywords

  • Congenital muscular dystrophy
  • Matrix-metalloproteinases
  • Merosin (laminin α2 chain)
  • Myoblast differentiation

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology

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