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The NIH announces a novel method for fast, simple, and accurate detection of nucleic acids outside the modern laboratory. Nucleic acid testing is highly specific and often provides definitive identification of a disease or pathogen. Methods to detect nucleic acid sequences and identify a disease or pathogen are dominated by PCR, but applying PCR-based techniques in remote settings is challenging. Researchers at the NIH have developed a universal, colorimetric, nucleic acid-responsive diagnostic system that uses two short peptide nucleic acid (PNA) probes and does not rely on PCR.

Novel tocopherol derivatives and tocopheryl quinone derivatives useful in the decrease of lysosomal substrate accumulation, the restoration of normal lysosomal size, and the treatment of lysosomal storage disorders (LSDs) are provided. The inventors have discovered that tocopherol and tocopheryl quinone derivatives with side chain modifications (such as terminal tri-halogenated methyl groups) exhibit improved pharmacokinetics, modulation of mitochondrial potential and restoration of some LSDs phenotypes.

Parvovirus B19 (B19V) infection causes fifth disease, a disease characterized by rashes to the face and other parts of the body that primarily affects children. However, adults can also develop fifth disease and it can lead to more severe conditions. Patients that are immunocompromised, such as those who are HIV infected, organ transplant recipients, and cancer patients, can be particularly susceptible to more severe outcomes from B19V infection. Infection can also cause anemia and in pregnant women, it can lead to hydrops fetalis.

Five human induced pluripotent stem cells (iPSC) lines are generated using lentivirus-based reprogramming technology. These lines are pluripotent, meaning they have the potential to differentiate into all cells in the body, and theoretically can proliferate/self-renew indefinitely. The iPSC lines are: NC1 (derived from female's fibroblasts), NC2 (derived from female's fibroblasts ), NC3 (derived from male's HUVECS), NC4 (derived from male's fibroblasts) and NC5 (derived from female's fibroblasts). Further details of these cells are available upon request.

Q490L point mutation was introduced into the rat M3 muscarinic receptor cDNA to confer persistent, constitutive (ligand-independent) activity. Expression of the M3 receptor mutant was placed under the control of a 650 bp fragment of the rat insulin promoter II (RIP II) to limit expression to the islet beta cell.

Researchers at NIH have developed islet beta cell M3 muscarinic acetylcholine receptor knockout mouse. The mice were generated by crossing floxed mouse M3 muscarinic acetylcholine receptor mice with mice in which Cre recombinase was controlled by the beta-cell specific rat insulin promoter (RIP-Cre mice).

Researchers at NIH have generated transgenic mice in which the M3 muscarinic receptor is overexpressed in pancreatic beta cells. This was done by placing the receptor gene under the control of the 650 bp rat insulin promoter II (RIP II). The resulting mice show a pronounced increase in glucose tolerance and enhanced plasma insulin levels. Strikingly, these mutant mice were resistant to diet-induced glucose intolerance and hyperglycemia.

Legionnaires' disease is caused by a type of bacteria called Legionella. CDC scientists have developed a real-time multiplex PCR assay for diagnosis and identification of Legionella strains. The assay consists of five sets of primers (targeting L. bozemanii, L. dumoffii, L. feeleii, L. longbeachae, or L. micdadei) and corresponding probes. Each probe is labeled with a different fluorophore which allows the detection of a particular strain in a single tube reaction.

A specific and sensitive TaqMan-based real-time (rt) RT-PCR assay has been developed by CDC scientists for detection of noroviruses in clinical and environmental specimens. This assay can be implemented to rapidly detect and distinguish norovirus strains from genogroups I and II, which are responsible for the majority of human infections. Additionally, the assay is multiplexed with an internal extraction control virus (coliphage MS2) to validate the results of the assay.

Two isoforms of sphingosine kinase, sphingosine kinase 1 (SphK1) and sphingosine kinase 2 (SphK2), convert sphingosine to sphingosine 1-phosphate (S1P) in mammalian cells. While the importance of SphK1 has been known for some time, information about SphK2 is still being revealed. Therefore, researchers at NIH have developed an antibody against mouse SphK2, which can be used to further understand the role of this enzyme.