Human adaptive evolution at myostatin (GDF8), a regulator of muscle growth

Article Abstract:

The positive natural selection has acted on human nucleotide variation at myostatin growth and differentiated factor 8 (GDF8) as the ratio of nonsynonymous:synonymous changes among humans is remarkably greater than expected under the neutral model and is strikingly different from patterns observed across mammalian orders. The signatures of selection at the molecular level have suggested that human variation at GDF8 is associated with functional differences.

Biological Product (except Diagnostic) Manufacturing, Nucleic Acid Derivatives, Growth factors, Genetic regulation, Nucleotides, Chemical properties

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Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2

Article Abstract:

The sixth thin-filament-related nemaline myopathy (NM) gene called CFL2 is identified encoding the actin-binding protein muscle cofilin-2, which is mutated in two siblings with congenital myopathy. It is found that cofilin-2 levels are significantly lower in the proband's muscle and the mutant protein is less soluble when expressed in Escherichia coli, suggesting that deficiency of cofilin-2 may result in reduced depolymerization of actin filaments.

Binding proteins

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An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1

Article Abstract:

A large multigenerational Austrian family displaying a novel form of X-linked recessive myopathy is identified. It is found that a missense mutation within the four and a half LIM domain 1 (FHL1) gene causes the X-linked myopathy with a postural muscle atrophy (XMPMA).

Gene mutations, Gene mutation, Atrophy, Muscular, Muscular atrophy

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