Mutant NURR1 gene in Parkinson's disease
AssigneeBaylor College of Medicine
InventorsWei-Dong Le, Demetrios K. Vassilatis
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AssigneeBaylor College of Medicine
InventorsWei-Dong Le, Demetrios K. Vassilatis
Estimating the term…
The identification of mutations in NURR1 provides molecular tools for the development of diagnostic, prophylactic and therapeutic agents for Parkinson's Disease. In specific embodiments, two point mutations are identified in exon 1 of the NURR1 gene in 10/107 (9.3%) cases of familial Parkinson's disease (PD). The mutations reduce NURR1 gene expression (mRNA and protein levels) by 87-95% and decrease tyrosine hydroxylase (a rate-limited dopamine synthesis enzyme) gene expression in vitro. It is also demonstrated that in vivo NURR1 mRNA levels in the lymphocytes from the PD patients with the exon 1 mutation are reduced by 68-84%, and in over 50% sporadic PD patients the NURR1 mRNA levels in lymphocytes are significantly reduced. A homozygous polymorphism is identified in intron 6 of NURR1 that correlates with the presence of Parkinson's disease. A splicing variant in NURR1 exon 5 is identified.
A method of diagnosing Parkinson's disease in an individual, comprising the steps of:
A method of diagnosing Parkinson's disease in an individual comprising the steps of:
A method of identifying an individual at risk for Parkinson's disease comprising the steps of:
A method of detecting the presence or absence of a mutation associated with Parkinson's disease in an individual, comprising:
A method of identifying an upregulator of NURR1 polynucleotide expression, comprising the steps of:
A method of treating Parkinson's disease in an organism, comprising the step of administering to the organism a therapeutically effective amount of a NURR1 polypeptide.
A kit for diagnosing Parkinson's disease in an animal comprising a primer for assaying a NURR1 polynucleotide.
An isolated NURR1 polynucleotide comprising a −291T-del.
An isolated NURR1 polynucleotide comprising a −245T-G-sub.
An isolated NURR1 polynucleotide comprising a 7048G7049 polymorphism.
A transgenic animal comprising a mutant NURR1 polynucleotide, said animal exhibiting at least one symptom associated with Parkinson's disease.
A method of treating Parkinson's Disease in an individual, wherein the individual expresses a mutant NURR1 polynucleotide, the method comprising a step selected from the group consisted of:
Dependencies are inferred from the claim text.