Friday, November 25, 2011

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,


This article.

No comments:

Post a Comment