Marfan syndrome gene search intensifies following identification of basic defect
Article Abstract:
From time to time, Marfan syndrome makes headlines, usually when a young, apparently healthy athlete dies suddenly, such as Olympic volleyball player Flo Hyman. The disease, which is inherited as an autosomal dominant trait, affects connective tissue, and the resulting dilatation of the aorta is the most dangerous consequence. Marfan syndrome afflicts about 1 in 10,000 individuals. Researchers looking for the fundamental genetic defect in this disorder have investigated almost two dozen different molecules without finding a defect to which Marfan syndrome may be attributed. Now, however, new findings suggest that the large molecule fibrillin is a prime suspect. Using monoclonal antibodies to fibrillin, which is a component of microfibrils, investigators observed abnormally low levels of staining of tissue specimens from patients with Marfan syndrome. Using this criterion, researchers without prior knowledge of the cases could correctly identify 24 of 27 patients with Marfan syndrome, and correctly rule out Marfan syndrome in 19 of 25 cases of other connective tissue diseases. The researchers emphasize that this analysis is not intended as a diagnostic tool, only as evidence that fibrillin may lie at the core of the multitude of defects of Marfan syndrome. Although the defect in fibrillin seems like the best candidate for the fundamental defect in the syndrome, it is still possible that the fibrillin abnormality might be secondary to an even more fundamental defect not yet discovered. The search for the location of the Marfan syndrome gene has not yet completely succeeded, but most chromosomes have been ruled out; the Marfan gene apparently lies on chromosome 8 or chromosome 15, or, perhaps, both. While the disease used to guarantee premature death before the age of 50, new advances in surgery are now used to strengthen the weak aorta, and Marfan syndrome patients may expect to lead long, healthy lives. As a historical footnote, researchers point out that although Abraham Lincoln is often cited as a famous Marfan syndrome case, the historical record is not adequate to ever make this diagnosis certain. Although Lincoln had the lanky frame associated with the syndrome, he was hyperopic, not myopic as would be expected for a Marfan syndrome patient. (Consumer Summary produced by Reliance Medical Information, Inc.)
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 1990
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Prescription drug abuse rises globally
Article Abstract:
The International Narcotics Control Board (INCB) has reported that medications containing narcotic or psychotropic drugs are becoming the drugs of choice for many abusers. Use of Internet as a global drug market has helped increased availability of prescription drugs for abuse, which present a higher overdose risk than the abuse of illicit drugs.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 2007
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