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Mutations identified in gene causing blindness, early heart attacks

Molecular geneticists have characterized gene mutations in families with pseudoxanthoma elasticum (PXE), a rare inherited disorder that can lead to blindness, early heart attacks, and cardiovascular disease. The study provides the basis for DNA-based carrier detection, prenatal testing, and improved diagnosis of the condition.

SourceThomas Jefferson University·JournalProceedings of the National Academy of Sciences·DateMay 14, 2000

New treatment approach might prevent serious complications of liver disease

Researchers identified a new treatment approach that could prevent life-threatening complications of alpha-1-antitrypsin deficiency. A drug called 4-phenylbutyric acid (PBA) improved secretion of mutant protein, increasing levels by 20% to 50%. This approach may also help patients with other diseases such as Alzheimer's and Parkinson's.

SourceWashU Medicine·JournalProceedings of the National Academy of Sciences·DateFeb 14, 2000