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Expression of nerve-regulated genes in muscles of mouse mutants affected by spinal muscular atrophies and muscular dystrophies

, : Expression of nerve-regulated genes in muscles of mouse mutants affected by spinal muscular atrophies and muscular dystrophies. Muscle & Nerve. 20(2): 186-194

The expression of the genes for the alpha-subunit of AChR (AChR-alpha), for the myogenic factors myogenin and MyoD, for the calcium-binding protein parvalbumin (PV), and for the muscular chloride channel CIC-1 was studied in the three mouse spinal muscular atrophies (SMAs). These were the mutants "wobbler" (WR), "muscle deficient" (MDF) and "progressive motor neuronopathy" (PMN). Murine myopathies "muscular dystrophy with myositis" (MDM) and "X-linked muscular dystrophy" (MDX) were used as controls. AChR-alpha and myogenin mRNA levels were strongly elevated in muscles affected by SMAs (reflecting denervation), whereas only myogenin mRNA was moderately elevated in MDX and MDM muscles, probably due to fiber regeneration. As in denervated muscle, CIC-1 and PV mRNA levels were lowered in SMAs. No changes were seen in muscles of up to 222-day-old symptomless ciliary neurotrophic factor (CNTF) knockout mice. The patterns of gene expression were characteristic for the type of muscle disease, indicating their possible usefulness for clinical diagnosis.


PMID: 9040657

DOI: 10.1002/(sici)1097-4598(199702)20:2<186::aid-mus8>;2-8

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