Congenital Muscular Dystrophies Linked To Glycans

Inherited diseases such as cystic fibrosis or Huntington disease involve disease-causing genetic mutations that damage or remove a protein that has an essential role in the body. This protein defect is the root cause of the disease symptoms. But for congenital muscular dystrophies (CMDs), the sequence of the protein that is central to normal function is typically unaffected. Instead, the defects lie in processing proteins—ones that are responsible for modifying the central protein by adding sugar chains (glycans). Either loss of the glycans or disruption of their structure is sufficient to cause muscle disease. read more

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