Key result
The kyphoscoliosis mouse mutant is caused by a mutation in a novel gene encoding a protein detected only in skeletal muscle and heart, leading to deficient muscle hypertrophy.
Identifies a candidate gene for muscle hypertrophy disorders; leaves open its role in human cardiomyopathy pending further study.
The ky mouse mutant exhibits a primary degenerative myopathy preceding chronic thoraco-lumbar kyphoscoliosis. The histopathology of the ky mutant suggests that Ky protein activity is crucial for normal muscle growth and function as well as the maturation and stabilization of the neuromuscular junction. Muscle hypertrophy in response to increasing demand is deficient in the ky mutant, whereas adaptive fibre type shifts take place. The ky locus has previously been localized to a small region of mouse chromosome 9 and we have now identified the gene and the mutation underlying the kyphoscoliotic mouse. The ky transcript encodes a novel protein that is detected only in skeletal muscle and heart. The identification of the ky gene will allow detailed analysis of the impact of primary myopathy on idiopathic scoliosis in mice and man.
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Gonzalo Blanco (2001) studied kyphoscoliosis and primary degenerative myopathy. ky mutation was evaluated on Identification of the ky gene and mutation. The kyphoscoliosis mouse mutant is caused by a mutation in a novel gene encoding a protein detected only in skeletal muscle and heart, leading to deficient muscle hypertrophy.
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