Genetic Mutations Associated with Stuttering


NIH investigators, for the first time, identified specific mutations associated with stuttering. These mutations are located within the genes encoding three enzymes, Glc-NAc phosphotransferase catalytic subunit [GNPTAB], Glc-NAc phosphotransferase recognition subunit [GNPTG], and N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase [NAGPA]. Together these constitute the pathway that targets lysosomal enzymes to their proper location. This pathway is associated with lysosomal storage disorders, and thereby this discovery provides potential novel therapeutic targets for amelioration of stuttering. This discovery has the potential to facilitate DNA-based (micro-array) testing among individuals who stutter, as well as enzyme-replacement therapy and small-molecule chaperone therapy for treatment of stuttering. The mutations described in this invention may account for up to 5-10% of this disorder in individuals who stutter, estimated to represent 60,000-120,000 individuals in the United States.

Potential Commercial Applications: Competitive Advantages:
  • Genetic diagnosis of stuttering disorder
  • Therapeutics for stuttering disorder
 


Development Stage:
Early stage

Inventors:

Dennis Drayna (NIDCD)  ➽ more inventions...

Changsoo Kang (NIDCD)  ➽ more inventions...


Intellectual Property:
U.S. Pat: 8,530,167 issued 2013-09-10
PCT Application No. PCT/US10/23437
US Application No. 13/148,340

Licensing Contact:
Brian Bailey, Ph.D.
Email: bbailey@mail.nih.gov
Phone: 301-594-4094

OTT Reference No: E-084-2009-0
Updated: May 5, 2009