Study identifies 3 enzymes required for building sugar superstructure involved in muscular dystrophies

For many inherited diseases, such as cystic fibrosis or Huntington disease, the disease-causing genetic mutation damages or removes a protein that has an essential role in the body. This protein defect is the root cause of the disease symptoms. However, for a group of muscular dystrophies known collectively as 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)...
Source: Health News from Medical News Today - Category: Consumer Health News Tags: Muscular Dystrophy / ALS Source Type: news