Surprising pathway implicated in stuttering

Researchers at the Washington University School of Medicine in St. Louis have found new evidence that suggests some stuttering is caused by mutations in a metabolic pathway involved in recycling old cell parts not a gene governing speech.  The study provides the first evidence that mutations affecting lysosomes play a role in causing people to stutter.  A genetic study was done on members of a large family, many of who stutter.  In most of the family members who stutter, mutations were found in three genes encode a pathway for directing newly made lysosomal enzymes to the lysosome.  All three of the mutations impaired the enzyme, but each did so in a different way.  Two of the mutations trap the proteins in the cell’s protein manufacturing center and the other mutation causes a folding problem and the protein is destroyed minutes after its been made.  These discoveries lead researchers to investigate future therapies for stuttering,

 

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