C - Chemistry – Metallurgy – 12 – N
Patent
C - Chemistry, Metallurgy
12
N
C12N 15/12 (2006.01) A61K 31/70 (2006.01) A61K 39/395 (2006.01) C07K 14/47 (2006.01) C07K 16/18 (2006.01) G01N 33/566 (2006.01) A61K 38/00 (2006.01)
Patent
CA 2087738
ABSTRACT Recently it has been shown that very high concentrations of lactic acid accumulate in the brains of people with Huntington's disease and that the neurons which die in the brains of these patients are virtually overexcited to death by the neurotransmitter glutamate. There is no know cure for Huntington's chorea. A 216 base pair cDNA reconstructed from the antisense strand of baboon urate oxidase gene encodes a 64 amino acid, 7.6 kD, peripheral membrane associated protein which appears to be an intracellular activator of the glutamate receptor, brain lactate dehyrogenase and vacuolar ATPase. These three proteins acting together are capable of leading to the death of neurons and to deposits of high concentration of lactic acid observed in the brains of Huntington's disease victims. Although not yet identified, a similar protein is expected to be present in humans. Because the 7.6 kD protein is encoded by DNA homologous to the antisense strand of urate oxidase mRNA it cannot be expressed in the presence of a normal wild type urate oxidase gene, but mutations and/or deletions occurring in strategic regions of the gene can allow expressions of the protein. Since this protein cannot be expressed in healthy humans, immunotherapeutic reagents directed against it should be useful for stopping Huntington's disease in humans without having any effect on other metabolic reactions.
Bergmann Johanna E.
Preddie Rick E.
Bergmann Johanna E.
Na
Preddie Rick E.
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