Activation of the lama2 gene in muscle regeneration: abortive regeneration in laminin alpha2-deficiency.

W Kuang, H Xu, JT Vilquin, E Engvall - Laboratory investigation; a …, 1999 - europepmc.org
W Kuang, H Xu, JT Vilquin, E Engvall
Laboratory investigation; a journal of technical methods and pathology, 1999europepmc.org
Mutations in laminin alpha2, a subunit of the basement membrane protein laminin-
2/merosin, cause merosin-deficient congenital muscular dystrophy. To gain insight into the
molecular mechanism of disease, we generated and used a mutant mouse, dyW, in which
the lacZ gene was inserted into the lama2 gene so that beta-galactosidase would be
expressed in place of laminin alpha2. Heterozygous and homozygous mutant mice are
normal at birth, but homozygous mice develop muscular dystrophy at 2 to 3 weeks of age …
Mutations in laminin alpha2, a subunit of the basement membrane protein laminin-2/merosin, cause merosin-deficient congenital muscular dystrophy. To gain insight into the molecular mechanism of disease, we generated and used a mutant mouse, dyW, in which the lacZ gene was inserted into the lama2 gene so that beta-galactosidase would be expressed in place of laminin alpha2. Heterozygous and homozygous mutant mice are normal at birth, but homozygous mice develop muscular dystrophy at 2 to 3 weeks of age. The lama2/lacZ gene was highly expressed in muscle in the early stages of embryonic myogenesis, but was down-regulated at later stages in both heterozygous and homozygous mice. No beta-galactosidase activity was detected in skeletal muscle after birth in adult heterozygous mice. In contrast, high beta-galactosidase activity was detected in postnatal homozygous mice. Induction of injury in heterozygous mice resulted in intense reexpression of beta-galactosidase in the injured muscle early in regeneration, with a decline in enzyme activity as repair of the tissue progressed. Although the initial response to injury was similar in heterozygous and homozygous mice with abundant beta-galactosidase-positive, mononucleated cells in the injured area, repair was rarely completed in the homozygous mice, evidently caused by excessive death of cells associated with immature myofibers. The defect in muscle repair was very efficiently corrected in homozygous dyW mice expressing a human LAMA2 transgene in skeletal muscle. The data show the importance of laminin alpha2 in muscle regeneration and suggest that a major contributor to disease in muscular dystrophy is abortive regeneration.
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