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:
MH Polymeropoulos (NHGRI) C Lavedan (NHGRI)
Patent Status:
DHHS Reference No. E-190-1997/0 --
U.S. Patent No. 7,001,720 issued 21 Feb 2006
Portfolios: Central Nervous System
Central Nervous System -Diagnostics-In Vitro Central Nervous System -Research Materials-cDNA Clones and Probes Central Nervous System -Diagnostics Central Nervous System -Research Materials
For Additional Information Please Contact: Norbert J. Pontzer PhD JD
NIH Office of Technology Transfer
6011 Executive Blvd, Suite 325
Rockville, MD 20852-3804
Phone: (301) 435-5502
Email: pontzern@mail.nih.gov
Fax: (301) 402-0220
