Geneticists identify the gene for the disease Charcot Marie Tooth


The disease Charcot-Marie-Tooth (CMT) is one of the most common inherited neurological diseases of the peripheral nervous system. Evolutive, it reaches the people irrespective of gender and does not life expectancy. It causes muscular atrophy (muscles melting) of the members, usually slowly progressive. There are 21 forms of CMT. The degree of disability is a mere annoyance to walk to the use of a wheelchair (approximately 10% of cases).

Several genes responsible for this disease have already been located and identified, and certain proteins.

A research team at the Institute of Medical Biology and Human Genetics, Medical University Graz 2F studied form of this disease leads to degeneration of nerve cells. Researchers from Graz are able to identify a new gene responsible for this disease. This gene is located on chromosome 7. This gene encodes the protein HSP27 (Heat-Shock Protein, heat shock protein), which is also responsible for other degenerative muscle diseases. The researchers found that up to 5 mutations can occur on this gene.

Additional studies conducted on nerve cells in mice have shown that the mutant gene causes reduced vitality, announcing a premature degeneration of the axon. Researchers have shown in vitro that the protein HSP27 participates in the organization of the intermediate filament cytoskeleton. It occurs mainly in the maintenance of the cytoskeleton, and transport proteins to the axon.

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