Jun, 2021 - By SMI
Mutation also leads to the toxic deposition of these altered protein causing, elastic loosening of the muscles of heart.
Muscle cells and the muscle fibers in the body has a very unique association in its structure. It can absolutely justified to call it, an association of different protein (actin and myosin), ions and energy molecules. Various types of muscle exist in the human body with each having different kind of aggregation, exist its respective functions.
Recently a group of researcher from University of Bonn, identified a rate but severe muscle disorder, as a result of a certain mutation. A single particular mutation in muscle, render improper or no breakdown of the proteins responsible for defensive function in the body, thereby causing the cells associated with it to perish. This rare bit of muscle disorder is affecting the children population, were severe heart damage is observed, accompanied by other problems like, respiratory and skeletal muscle damage. In most of these occurrences, patients are rarely surviving beyond 20 years of their age.
The study was intended with a potential therapeutic approach, by the researcher. The targeted upon a simple mechanism that is observed in day to day life, in each person’s body, that is each and every structural muscles, upon movement faces immediate damage and thereby, immediate replacement of the damaged portion is also observed, to maintain a certain stability in the body constitution. This recycling mechanism occurs under the supervision of a protein called as BAG3.
Upon studying the protein structure its expression, a single mutation is found causing that rare muscle disorder. Due to the mutation the protein BAG3, becomes stagnant, grow large in their size thereby blocking the repair mechanism. This mutation also leads to the toxic deposition of these altered protein causing, elastic loosening of the muscles of heart.
The study was done by a successful replication of the disorder in the mouse model. As they are hopeful that as human genes exists in allelic form, one from the mother another coming from the father. Mutation coming from any of the pair, can be resisted by the other healthy pair, of an allele. Although this theory was properly executed in animal model, further research is required for its implementation in the human system.
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