Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy.

Nemaline myopathy, the most common congenital myopathy, is caused by mutations in genes encoding thin filament and thin filament-associated proteins in skeletal muscles. Severely affected patients fail to survive beyond the first year of life due to severe muscle weakness. There are no specific therapies to combat this muscle weakness.

Mouse models for thin filament disease.

Thin filament integrity is important for the ordered structure and function of skeletal muscles. Mutations within genes that encode thin filament and thin filament-associated proteins can cause muscle disruption, fiber atrophy and alter fiber type composition, leading to muscle weakness. Analyses of patient biopsy samples and tissue culture systems provide rapid methods for studying disease-causing mutations.

The murine stanniocalcin 2 gene is a negative regulator of postnatal growth.

Stanniocalcin (STC), a secreted glycoprotein, was first studied in fish as a classical hormone with a role in regulating serum calcium levels. There are two closely related proteins in mammals, STC1 and STC2, with functions that are currently unclear. Both proteins are expressed in numerous mammalian tissues rather than being secreted from a specific endocrine gland.

Skeletal muscle repair in a mouse model of nemaline myopathy.

Nemaline myopathy (NM), the most common non-dystrophic congenital myopathy, is a variably severe neuromuscular disorder for which no effective treatment is available. Although a number of genes have been identified in which mutations can cause NM, the pathogenetic mechanisms leading to the phenotypes are poorly understood. To address this question, we examined gene expression patterns in an NM mouse model carrying the human Met9Arg mutation of alpha-tropomyosin slow (Tpm3).

Muscle weakness in a mouse model of nemaline myopathy can be reversed with exercise and reveals a novel myofiber repair mechanism.

Patients with the inherited muscle disease nemaline myopathy experience prolonged muscle weakness following periods of immobility. We have examined endurance exercise as a means of improving recovery following muscle inactivity in our alpha-tropomyosin(slow)(Met9Arg)-transgenic mouse model of nemaline myopathy. Physical inactivity, mimicked using a hindlimb immobilization protocol, resulted in fiber atrophy and severe muscle weakness.

Ontogeny of immunoglobulin expression in the brushtail possum (Trichosurus vulpecula).

Marsupials, unlike eutherians, are born immunologically immature, without circulating lymphocytes or organised lymphoid tissue. Their immune response develops while they are in the pouch not in the uterus. In this study, the onset time of immunoglobulin expression in Trichosurus vulpecula pouch young was estimated by reverse transcription polymerase chain reaction.