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Cloning Of A Gene Mutation For Parkinson's Disease

Description of Invention:
Parkinson's Disease (PD) affects between 500,000 to one million persons in the United States alone. The disease is most common in persons over the age of 70. However, one form of PD appears to be hereditary and is probably responsible for early on-set PD, wherein the symptoms occur before the age of 60. The newly discovered gene mutation appears to be linked to the early on-set form of PD. The mutation, a threonine for alanine substitution, at amino acid position 53 of the human alpha-synuclein protein effects the secondary structure of the protein and causes an aggregation of Lewy bodies in the brain. This new mutation is considered to be a valuable tool in predicting a person's susceptibility to early on-set PD. Assays developed from this mutation can also be used for diagnostic purposes.

Inventors:
Mihael H Polymeropoulos (NHGRI)
Christian Lavedan (NHGRI)


Patent Status:
HHS, Reference No. E-190-1997/0
US, , Patent No. 7,001,720, Issued 21 Feb 2006
PCT, Application No. PCT/US98/13071 filed 25 Jun 1998



For Licensing Information Please Contact:
Charlene Sydnor Ph.D.
NIH Office of Technology Transfer
6011 Executive Blvd. Suite 325,
Rockville, MD 20852
United States
Email: sydnorc@mail.nih.gov
Phone: 301-435-4689
Fax: 301-402-0220


Ref No: 28

Updated: 01/1998

 

 
 
 
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