Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Article Abstract:

The mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophies (LGMDs). The LGMD is an enzyme-regulated inherited disease. The gene which encodes muscle-specific calcium-activated neutral protease 3 (CANP3) is present in the region of 15q15.1-q21.1. The CANP3 is an active gene and regulates the signal transduction. Mutation in CANP3 stops the proteolytic activity and regulatory role of signal transduction. These results indicate an etiology for LGMD diseases.

Evaluation, Genetic aspects, Mutation (Biology), Mutation, Muscular dystrophy, Calpain

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Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy

Article Abstract:

The fatal muscle wasting disease Duchenne muscular dystrophy is caused by the lack of dystrophin in muscle membranes. Dystrophin deficiency, however, does not affect mice. A study on mice with dystrophin and dystrophin-related protein utrophin deficiency reveal ultrastructural neuromuscular and myotendinous junction abnormalities that causes premature death. Results indicate that dystrophin and utrophin have complementary functions in developmental muscular pathways.

Health aspects, Mice, Mice (Rodents), Duchenne muscular dystrophy, Dystrophin

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Alzheimer presenilins in the nuclear membrane, interphase kinetochores, and centrosomes suggest a role in chromosome segregation

Article Abstract:

The majority of early-onset familial Alzheimer's disease are due to mutations in two related genes, presenilin 1 and 2. Their function is unknown, although their structural features suggested that they could be membrane proteins. The presenilins were localized, and their colocalization with kinetochores on the nucleoplasmic surface of the inner nuclear membrane, indicate that they could have a role in chromosome organization and segregation.

Alzheimer's disease

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