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Comprehensive study using bioinformatics predicts the molecular causes of many genetic diseases
Date:2/9/2010

ked for statistical co-occurrences of mutations that fell in or near those functional sites. Because the computer algorithms are imperfect, researchers compared that information against a data set of neutral AAS, ones that don't cause human disease, said Mooney. "We looked for statistical differences between the percentage of mutations that fell into the same functional site from both non-disease and disease-associated AAS and looked to see if there was a statistically significant enrichment or depletion of protein activity based on the type of AAS . That data was used to hypothesize the molecular mechanism of genetic disease," said Mooney.

Mooney says 40,000 AAS were analyzed which represents one of the most comprehensive studies of mutations. Describing the results, he used the analogy of a car as a protein -- a big molecular machine. "We are predicting how this machine will break down," said Mooney. "We've known the car isn't working properly because it has some defect; now we can hypothesize that the symptom stems from a broken water pump."

The web tool, designed to enhance the functional profiling of novel AAS, has been made available at http://www..mutdb.org/profile. Mooney identified three different areas of research that could be furthered by use of the tool. Scientists who manage databases of clinically observed mutations for research purposes could develop hypotheses about what those mutations are causing on a molecular level; they may also be able to use the tool to correlate molecular activity to the clinical severity or subtype of a disease. Mooney says cancer researchers re-sequencing tumors could use the tool to identify mutations that drive the progression of the malignancy. He also expects non-clinical researchers who work with mutations in proteins to use the tool to gain insight into what is causing the mutations. "We are happy to collaborate with scientists, to share data and help
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Contact: Kris Rebillot
krebillot@buckinstitute.org
415-209-2080
Buck Institute for Age Research
Source:Eurekalert

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