Bio Saga Blog - A Chronicle of Life Sciences & Informatics

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This one is not so recent article, nevertheless very interesting and path breaking, Scientists have successfully used "next generation sequencing" to identify mutations that may cause a rare and mysterious genetic disorder. The research, published by Cell Press on July 29th in the  American Journal of Human Genetics,  demonstrates that sequencing an affected individual's entire "exome"; that is, all of the genes that carry instructions for producing proteins, can reveal critical genes that when mutant, cause inherited disorders. Perrault syndrome is a recessive disorder that is associated with hearing loss in both boys and girls, and failure of ovarian function in girls. Some individuals with Perrault syndrome also have neurological symptoms. Prior to the current study, no genes for Perrault syndrome had been identified. A research group led by Mary-Claire King, PhD, from the University of Washington in Seattle studied the genetics of Perrault syndrome in a s...

In a study appearing in the newest issue of the  Archives of Neurology , members of the Texas Alzheimer's Research Consortium reported that they have  identified protein biomarkers  in the blood that can be used to distinguish between individuals with and without Alzheimer's disease. The researchers compared protein patterns in blood samples from hundreds of individuals with or without Alzheimer's disease and incorporated these potential biomarkers into an algorithm for detecting Alzheimer's cases in a test group. Their results so far suggest this algorithm can accurately classify most Alzheimer's cases — particularly when combined with  APOE  status and demographic data. And, they said, information from the biomarker study is offering clues about possible sub-groups within Alzheimer's. For instance, by looking at some of the proteins that are frequently expressed at different levels in the blood of those with Alzheimer's disease, the team identified a pote...

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Mutations in the protein tyrosine kinase gene ERBB4 contribute to — and may provide hints about treating — a subset of melanoma, according to a paper by researchers from the National Institutes of Health and Johns Hopkins University that appeared in the advanced, online edition of Nature Genetics this week. The team sequenced protein tyrosine kinase or PTK genes in 29 individuals with melanoma. Their search uncovered dozens of somatic mutations affecting the kinase domain of 19 different PTK genes. When they looked at the same 19 genes in another 79 melanoma patients, the researchers found that almost a fifth of those tested harbored mutations in ERBB4 . And, they reported, knocking down the mutated form of ERBB4 or using a drug that targeted the gene slowed the growth of melanoma cell lines, suggesting it might be useful to evaluate ERBB4 status in melanoma patients. Researchers at the NIH Intramural Sequencing Center sequenced all 86 PTK family genes in tumor samples from 29 ...

BANGALORE, Indian Researchers have achieved a breakthrough, identifying a protein pathway that triggers cancer in the human body owing to its erratic behaviour. Researchers at Bangalore’s National Centre for Biological Sciences (NCBS) led by Satyajit Mayor and Neha Vyas have identified what is known as the Hedgehog pathway and the ways in which it forms and leads to cancer. The researchers, who have published their work in the journal, Cell, say this pathway is formed when the proteins (called hedgehog), which are separate, get drawn to each other by electrostatic interactions between amino acids present around the proteins. A small cluster of proteins then gets formed and goes on to form a mega-cluster. This travels to other cells and creates effects that are good or bad — the cluster could be normal and help organ regeneration or tissue repair, or the cluster could get hyperactive and affect other cells, which is the sign that cancer is coming. Simply put, the NCBS research indicates...

Ask XTractor - XTractor™ now turns ON its ‘Insta Search’. Get a snapshot of the XTractor data for your desired query using the Insta Search feature. Which are the biological processes involved in Leukemia? What are the drugs associated with Ovarian Neoplasm? What are the diseases modulated by FRAP? Then get a snapshot of the XTractor data from the latest published abstracts on your questions using the 'Insta Search' feature. Be a part of the XTractor community. XTractor is the first of its kind - Literature alert service , that provides manually curated and annotated sentences for the Keywords of user preference. XTractor maps the extracted entities (genes, processes, drugs, diseases etc) to multiple ontologies and enables customized report generation. With XTractor the sentences are categorized into biological significant relationships and it also provides the user with the ability to create his own database for a set of Key terms. Also the user could change the Keywords...

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Scientists have unravelled the structure of a cell signalling receptor in the blood control system which when damaged is responsible for diseases such as leukaemia. Their discovery helps to explain, for the first time, how this receptor is activated and will form the springboard for the development of new treatments. The findings, published on 8 August in the prestigious science journal, Cell , are the result of an interstate collaboration between a team of scientists led by Professor Michael Parker, St Vincent’s Institute (SVI), Melbourne and Professor Angel Lopez, Hanson Institute at the Institute of Medical and Veterinary Science, Adelaide. Using leading edge technology that allows scientists to view minute parts of cells, the scientists have developed the first 3D image of the receptor’s structure and will use the unique knowledge it provides to find drugs to modify its action and control diseases such as Leukaemia and asthma. Professor Lopez said: “Leukaemia is a...

A research team from the University of Maastricht, The Netherlands , found biomarkers to detect the presence of ruptured atherosclerotic plaques. They observed that the blood of individuals with ruptured atherosclerotic plaques contained antibodies reactive against two peptides, E1 and E12. The presence of these antibodies was detected extremely early after the onset of symptoms of a heart attack, according to the investigators. They caution, though, that further studies on additional patients are needed before this work can be translated into the clinic. Be a part of the XTractor community. XTractor is the first of its kind - Literature alert service , that provides manually curated and annotated sentences for the Keywords of user preference. XTractor maps the extracted entities (genes, processes, drugs, diseases etc) to multiple ontologies and enables customized report generation. With XTractor the sentences are categorized into biological significant relationships and it also ...

A protein related to heart disease and Alzheimer's is found to be a factor in HIV. The apolipoprotein (apo) E4 isoform has been implicated in neurodegeneration in Alzheimer's disease, cardiovascular disease, and stroke. Now, investigators at the Gladstone Institutes, the University of California, San Francisco, the University of Texas Health Science Center at San Antonio, and the Infectious Disease Clinical Research Program, Uniformed Services University, Bethesda, Maryland have shown that this troubling protein is a risk factor for AIDS progression rates and promotes entry of HIV into cells. Do you want to read more?

Blogging previously about biomarker in, Biomarkers to Open the Door to Personalized Medicine and Represents a Seismic Shift for the Pharma Industry . Here are two interesting study on biomarkers. First one, Dr. Johan Arnlov, a researcher at Uppsala University, and lead author of a report in the May 15 issue of the New England Journal of Medicine . A bundle of four offbeat biomarkers accurately predicted the risk of death from cardiovascular disease in a study of older Swedish men, researchers report. It is just a preliminary finding in a long process that might one day lead to widespread medical use of these biomarkers in addition to well-established risk factors such as high blood pressure and cholesterol. And second one, Potential cardiovascular disease markers – CliPro™ based analysis: Introduction Quantitative analysis of proteins in body fluids for disease diagnosis has attained significant clinical relevance as it could reflect the pathophysiological state of the organism. Despi...