#0253: Novel Mutation in the Ferritin Light Chain Gene Causing an Autosomal Dominant Neurodegenerative disease
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TECH FIELD(S)
Research Materials-Animal
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FEATURES
Iron accumulation has been observed in a number of neurodegenerative diseases. In addition, genetic variations in the ferritin light chain gene have been implicated in ferritin deposition and iron accumulation that are associated with neurodegenerative disease. These observations suggest a role for ferritin and iron in the pathogenesis of neurodegenerative disease. Researchers at Indiana University have identified a novel genetic variant in the ferritin light chain gene associated with the development of a neurodegenerative disease characterized by the deposition of ferritin and iron in the central nervous system. Specifically, this invention includes nucleic acids encoding a ferritin light chain variant, a ferritin light chain variant polypeptide, ferritin light chain variant polypeptide-specific antibodies, and methods of use thereof. The invention may be useful for diagnosis and/or determination of a predisposition for such a neurodegenerative disease.
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BENEFITS
- An isolated nucleic acid molecule encoding a full length FTL protein variant, which is associated with a neurodegenerative disease
- An isolated polypeptide which is associated with a neurodegenerative disease
- Antibodies which are immunologically specific for the FTL variant of the present invention
- Oligonucleotide primers useful for practicing the invention are also described
- A method for diagnosing or determining a predisposition for a neurodegenerative disease in a patient based on the presence or absence of the FTL gene variant
- The description of a kit for practicing the method described above
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INVENTOR(S)
Ruben Vidal, Ph.D. and Bernardino Ghetti, M.D.
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INTELLECTUAL PROPERTY STATUS
This technology is the subject matter of the published U.S. Patent Application No. 20040259107 (10/684,742). We are currently pursuing a corporate partner to commercialize this invention as a kit for use by researchers in the field of neurodegenerative disease.
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CONTACT INFORMATION
For additional information about this technology, please contact:
Jeremy L. Schieler, Ph.D.
351 W. Tenth Street
Indianapolis, IN 46202
(317) 278-1948
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