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New knowledge about serious muscle disease
Date:10/31/2013

y to the functioning of the human organism, and genetic defects in the process that attaches mannose to the proteins known as O-mannosylation can lead to diseases such as muscular dystrophy.

"To date, only one single protein has been identified and characterised where the mannose deficiency on the protein leads to muscular dystrophy, but our method enables us to faster identify many new proteins that have mannose attached and therefore potentially play a key role for the disease," says Adnan Halim, who is associated with the research project and a postdoc with the Danish National Research Foundation, Copenhagen Center for Glycomics.

Facts about muscular dystrophy

Muscular dystrophy is a collective term for a range of neuromuscular disorders. There are roughly 100 different known muscular dystrophy diagnoses, which manifest themselves as various functional impairments/disabilities. The individual diagnoses vary greatly, as does the manner in which they develop. Some people experience only a few symptoms, while others suffer extensive functional impairment. About 3,000 people in Denmark suffer from one of the muscle-related diseases classified as muscular dystrophy. Muscular dystrophy cannot be cured, but much can be done to relieve and treat the consequences of the diseases. Source: The Danish Muscular Dystrophy Foundation.

Facts about the research

The researchers used cells with a functional pathway to attach mannose to proteins, but then simplified the proteins' sugar chains by removing the gene responsible for lengthening the chains and making them more complex. The proteins carrying the 'sugar chain', which now consists solely of mannose, were then isolated, enabling the researchers to determine which proteins carried mannose and where the mannose was situated.

Facts about mannose

For many years researchers believed that O-linked mannose on proteins was found only in yeast, bu
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Contact: Malene Bech Vester-Christensen
mbxc@novonordisk.com
45-22-15-25-89
University of Copenhagen
Source:Eurekalert

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