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Genetic Mutations Associated with Stuttering

Posted May 04 2009 5:00pm

Description of Invention:
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.

Applications:
  • Genetic diagnosis of stuttering disorder
  • Therapeutics for stuttering disorder


Development Status:
Early stage

Inventors:
Dennis T Drayna (NIDCD)
Changsoo P Kang (NIDCD)


Patent Status:
HHS, Reference No. E-084-2009/0
PCT, Application No. PCT/US10/23437 filed 08 Feb 2010


Licensing Status:
Available for licensing.


Portfolios:
Internal Medicine
Internal Medicine - Diagnostics
Internal Medicine - Therapeutics



For Additional Information Please Contact:
Suryanarayana Vepa Ph.D.
NIH Office of Technology Transfer
6011 Executive Blvd. Suite 325,
Rockville, MD 20852
United States
Email: vepas@mail.nih.gov
Phone: 301-435-5020
Fax: 301-402-0220


Ref No: 1935

Updated: 05/2009

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