Researchers at the University of Texas Southwestern Medical Center and Baylor Institute for Immunology Research have identified a novel expression signature in patients with DiGeorge Syndrome. DiGeorge Syndrome occurs because of a chromosomal deletion in 22q11.2, resulting in the hemizygous deletion of > 60 genes and 4 microRNAs. Peripheral blood taken from 31 DiGeorge Syndrome patients and 22 normal controls was analyzed for microRNA expression signatures. Van Oers’ group identified a panel of microRNA that is deregulated in the peripheral blood of DiGeorge patients as compared to controls, and in particular, miR-185 was observed to have reduced expression (<60%) in DiGeorge patients. miR-185 is a microRNA gene located within the 22q11.2 gene locus.
The authors note that evaluating miR-185 expression levels in blood may be a faster and more reliable method to diagnose patients with DiGeorge Syndrome and can be used as a marker for 22q11.2 deletions. Several patients presenting with DiGeorge-like symptoms had normal expression levels of miR-185, and follow-up FISH analysis confirmed these patients had no deletion of 22q11.2. Considering DiGeorge patients can present with several different clinical symptoms, the use of association studies and mosaic cluster analyses has provided evidence for the first time that miR-185 expression can distinguish patients with true DiGeorge 22q11.2 deletions and patients with other genetic abnormalities presenting with similar symptoms. The study concludes by noting that microRNA profiling can be useful in helping researchers and clinicians identify important biomarkers for other abnormal chromosomal diseases presenting with heterogeneous symptoms like DiGeorge Syndrome.
M. Teresa de la Morena, Jennifer L. Eitson, Igor M. Dozmorov, Serkan Belkaya, Ashley R. Hoover, Esperanza Anguiano, M. Virginia Pascual, Nicolai S.C. van Oers, Signature MicroRNA Expression Patterns Identified in Humans with 22q11.2 Deletion/DiGeorge Syndrome, Clinical Immunology (2013), doi:10.1016/j.clim.2013.01.011
Article Link: http://www.sciencedirect.com/science/article/pii/S1521661613000223
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Protects Composition of Matter and Sequencing Variants Core to its microRNA-based Molecular Diagnostics
NOTE: hsa-miR-29c* mentioned bellow is the old name for hsa-miR-29c-5p.
PHILADELPHIA and REHOVOT, Israel, Feb. 14, 2013 /PRNewswire/ – Rosetta Genomics Ltd. (NASDAQ: ROSG), a leading developer and provider of microRNA-based molecular diagnostics, today announced that the Company has received two notices of allowance from the U.S. Patent and Trademark Office (“USPTO”) for Patent Applications 12/661,041 and 12/850,091.
The allowed claims of 12/661,041, entitled “microRNAs and Uses Thereof,” cover the composition of matter for miR-29c*, as well as sequence variants (90% identical thereto), a vector and a probe comprising the same. miR-29c* is a core element in the Company’s lead commercial product, miRview® mets2 diagnostic assay for the identification of the tumor of origin in Cancer of Unknown and Uncertain Primary (“CUP”).
The allowed claims of 12/850,091, entitled “Viral and Viral Associated MiRNAs and Uses Thereof,” cover the composition of matter for herpes simplex virus 1 miR-H3, miR-H4 and miR-H5, as well as [click to continue…]
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New, Targeted Therapies Make Accurate Classification of Lung Cancer Increasingly Important
PHILADELPHIA and REHOVOT, Israel, Nov. 6, 2012 /PRNewswire/ – Rosetta Genomics (NASDAQ: ROSG), a leading developer and provider of microRNA-based molecular diagnostic assays, announces that the New York State Department of Health has given the Company final approval for its miRview® lung assay following conditional approval issued in June 2012. With this final approval, Rosetta Genomics can continue to offer the miRview® lung assay in all 50 U.S. states. New York is the only U.S. state that requires an independent regulatory review process for laboratory-developed tests.
miRview® lung is the Company’s proprietary microRNA-based assay that can accurately differentiate between the four main subtypes of lung cancer using small amounts of tumor cells.
“We are pleased to have final New York State approval for our micro-RNA-based miRview lung assay. This represents an important validation of our technology as many jurisdictions around the world recognize the rigor of review in the state of New York. With the introduction of targeted lung cancer therapies, along with [click to continue…]
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Medicare-Covered Assay Accurately Identifies Tumor of Origin in Cancer of Unknown Primary
PHILADELPHIA, REHOVOT, Israel, and PITTSBURGH, Oct. 2, 2012 /PRNewswire/ — Rosetta Genomics Ltd. (NASDAQ: ROSG), a leading developer and provider of microRNA-based molecular diagnostics, and Precision Therapeutics, Inc. (PTI), a life science company known for its expertise in the science of personalizing cancer therapy by advancing genomic testing and bioinformatics, today announced the commercial launch of the miRview® mets2 assay in the U.S. oncology market.
miRview® mets2, Rosetta Genomics’ flagship product, is an innovative diagnostic tool for clinicians in the evaluation of their Cancer of Unknown/Uncertain Primary (CUP) patients. Rosetta and PTI will be co-promoting the product in the U.S. and active promotion by both companies has commenced.
“We are excited to launch our co-promotional activities with PTI as we are confident that our combined efforts will make our miRview® mets2 assay more broadly available to the 200,000 patients diagnosed with CUP each year in the U.S. The accurate diagnosis of [click to continue…]
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Low-Level Expression of miR-375 Correlates with Poor Outcome and Metastasis While Altering the Invasive Properties of Head and Neck Squamous Cell Carcinomas.
Researchers at Department of Pathology, Albert Einstein College of Medicine used global miRNA expression profiling of head and neck squamous cell carcinoma (HNSCC) samples and adjacent normal tissue to rank those miRNAs that were most significantly altered in a patient population of 123. Harris et al. evaluated 736 of the currently known 1898 unique mature human microRNAs. Rank Consistency Score analysis revealed miR-375 to have the most significantly lowered miRNA levels in tumors relative to matched adjacent nonmalignant tissue from the same patient.
While this result has been previously observed by other groups, this latest study reveals that low miR-375 expression levels correlate significantly with cancer survival and distant metastasis. In a study of 123 primary HNSCC patients using multivariable Cox proportional hazard ratios (HR) and 95% confidence intervals (CI), both death from disease (HR: 12.8, 95% CI: 3 to 49) and incidence of distant metastasis (HR: 8.7, 95% CI: 2 to 31) correlated with lower expression levels of miR-375 regardless of the site or stage of the tumor. In addition, oral cavity tumor cell lines (eg, UMSCC1 and UMSCC47) overexpressing miR-375 were significantly less invasive in vitro than their matched empty vector controls.
The authors conclude that miR-375 may be suitable as a potential prognostic marker of poor outcome and metastasis in HNSCC and that it may function by suppressing the tumor’s invasive properties.
Harris T, Jimenez L, Kawachi N, Fan JB, Chen J, Belbin T, Ramnauth A, Loudig O, Keller CE, Smith R, Prystowsky MB, Schlecht NF, Segall JE, Childs G.
Low-Level Expression of miR-375 Correlates with Poor Outcome and Metastasis While Altering the Invasive Properties of Head and Neck Squamous Cell Carcinomas.
Am J Pathol., in press.
http://www.sciencedirect.com/science/article/pii/S0002944011010947
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