City of Hope

Other

James P MacMurray

David E Comings

Nunzio Bottini

The ACP1 *A allele provides a means for diagnosing susceptibility of a human subject to hyperlipidemia, especially hyperlipidemia associated with metabolic syndrome, a means for treating, or preventing the onset of, hyperlipidemia and metabolic syndrome, and a means for screening and identifying drugs suitable for use in treating or preventing hyperlipidemia, especially hyperlipidemia associated with metabolic syndrome. Diagnostic kits are also provided.

Methods and compositions for acid phosphatase-1 gene inhibition

Alzheimer's disease is characterized by the presence of senile plaques formed from beta amyloid (A&#x3b2;), and neurofibrillary tangles (NTFs) formed from paired helical filaments consisting of hyperphosphorylated tau. A number of studies have shown that the NTFs correlate better with the duration and severity of Alzheimer's disease than senile plaques. However, a criticism of the primary etiological role of NTFs in Alzheimer's disease is the absence of variants of kinases or phosphatases associated with Alzheimer's disease. Acid phosphatase, a product of the ACP 1 gene, is a ubiquitous low molecular weight protein tyrosine phosphatase. A common allele, ACP 1*A, is associated with a lower activity of acid phosphatase. It is due to an Arg 105 Gln substitution of the ACP1 locus and detected as a Taq I polymorphism. We report a significant association of the low activity 2 allele with sporadic early onset Alzheimer's disease (EOAD). These findings support the possibility that other variants of kinase and genes may be associated with sporadic Alzheimer's disease.

Association between the acid phosphatase (ACP1) gene and Alzheimer's disease

The present invention relates to the observation that women having an A&rarr;T 1890 polymorphism in the 3&prime; UTR of the cholinergic muscarinic receptor 2 (CHRM2) gene have an increased risk for developing major depression. The present invention provides diagnostic, screening and therapeutic methods based on that observation.

Association of the muscarinic cholinergic 2 receptor (CHRM2) gene with major depression in women

The present invention is directed to two single nucleotide polymorphisms, identified as G-182A and G-387A, in the promoter region of the human phenylethanolamine N-methyltransferase (PNMT) gene, the gene products thereof, and to methods for the determination (diagnosis) of susceptibility to (risk of) neurologic or neuropsychiatric diseases involving adrenergic neurons.

Polymorphisms in the PNMT gene

Disclosed are methods for screening subjects to determine their risk for developing cardiovascular disease, screening methods to determine potential longevity, therapeutic methods and compositions for treating patients at risk for developing cardiovascular disease, and screening methods for identifying materials useful in the therapeutic methods.

Association of the serotonin transport (HTT) gene with cardiovascular disease and longevity

The present invention is directed to the C-45T polymorphism in the Sp1 binding region of the CCK gene and the role of genetic variants in the CCK gene as a risk factor for smoking and/or unsuccessful smoking cessation in women. In particular, the invention is directed to a method for diagnosing a polymorphism which is a risk factor for smoking comprising hybridizing a nucleic acid probe, which hybridizes specifically to an isolated DNA comprising a nucleotide sequence coding for human CCK containing a polymorphism described herein or its complement, to a patient's sample of DNA or RNA under stringent conditions which allows hybridization of said probe to nucleic acid comprising said polymorphism but prevents hybridization of said probe to a wild-type nucleic acid, wherein the presence of a hybridization signal indicates the presence of said polymorphism.

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Loma Linda, CA, United States of America

James P MacMurray