Protein regulating level of bile in liver discovered
Aug 1, 2008
Researchers at the University of Pennsylvania School of Medicine have discovered that a protein called FOXA2 controls genes that maintain the proper level of bile in the liver. FOXA2 may become the focus for new therapies to treat diseases that involve the regulation of bile salts.

Diseases of bile regulation, such as primary sclerosing cholangitis (PSC), are characterized by problems with bile transport from the liver to the gut. The researchers found that in both children with biliary atresia and adults with PSC, syndromes of different etiologies, expression of FOXA2 in the liver is severely reduced. FOXA2 regulates expression of transporter proteins responsible for moving bile out of the liver, as well as several enzymes that function in bile acid detoxification. The study suggests that strategies to maintain FOXA2 expression might be a novel therapeutic goal.
[Nature Medicine]
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Researchers explain how previously ignored parts of HIV genome play key role in drug resistance
Jul 31, 2008
Now, scientists at McGill University have revealed how mutations hidden in previously ignored parts of the HIV genome play an important role in the development of drug resistance in AIDS patients.

"HIV develops resistance very rapidly, and once that happens, drugs don't work as well as they theoretically should, or they stop working altogether," explained Dr. Matthias Götte, an associate professor in McGill's Department of Microbiology and Immunology. "Physicians routinely have the patient's virus tested for resistance in advance of treatment to help make the appropriate clinical decisions."
[Journal of Biological Chemistry]
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Increased Burden of Rare Genetic Variations Found in Schizophrenia
Jul 30, 2008
Two New Sites of Deletions Implicated in Largest Study of its Kind: People with schizophrenia bear an "increased burden" of rare deletions and duplications of genetic material, genome-wide, say researchers supported in part by the National Institute of Mental Health (NIMH), a component of the National Institutes of Health (NIH).

"Although many of us have these changes in our genetic material, they are about 15 percent more frequent in people with schizophrenia," explained Pamela Sklar, M.D., Ph.D., of Harvard University and the Stanley Center for Psychiatric Research. "We also discovered two large areas of chromosomal deletions that confer a great deal of risk for schizophrenia and confirm involvement of a third previously reported area."

Sklar and colleagues in the International Schizophrenia Consortium team, representing 11 research institutes worldwide, report on the largest study of its kind to date, online July 30, 2008, in the journal Nature.

"By implicating two previously unknown sites, this study triples the number of genomic areas definitely linked to schizophrenia," said NIMH Director R Thomas Insel, M.D. "It also confirms in a large sample that unraveling the secrets of rare structural genetic variation may hold promise for improved diagnosis, treatment and prevention of such neuro-developmental disorders."

Although recent smaller studies had identified such structural genetic glitches in schizophrenia, this genome-wide association study is the first large enough to detect weak signals that might otherwise be drowned out amid a din of statistical noise. Genetic factors are thought to account for 73 to 90 percent of schizophrenia, but most of these have so far eluded detection.
[Nature]
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