We are all familiar with the dangers of too much fat in our diet--increased risk of diabetes, heart disease, and obesity are just a few of the most severe consequences. But some rare metabolic diseases, such as hypolipidemia and Tangier disease, seem to work in reverse--they severely limit the amount of fat and cholesterol that makes it into the bloodstream. Researchers from the Carnegie Institution and the University of Pennsylvania have found a specific gene that could be responsible for such conditions; when the gene is disrupted, so is the ability to absorb lipids (fatty substances that include cholesterol) through the intestine.
In their latest research, published in the April 4 issue of the journal Cell Metabolism, Steve Farber of Carnegie's Department of Embryology and Michael Pack, of the University of Pennsylvania School of Medicine describe their efforts to locate a gene called fat free within the genome of the zebrafish. These fish have become popular research organisms because their embryos are transparent, allowing studies that are not possible with traditional model organisms, such as mice and rats. Farber and Pack found that, despite the distant evolutionary relation between humans and zebrafish, the fat free gene in zebrafish is quite similar to a pair of human genes.
The researchers also explore the physical effects of a specific mutation of the gene, seeking to explain why larval fish with the mutation exhibit an impaired ability to absorb cholesterol. These fish die when they are about a one-and-a-half weeks old because of this defect, even though they look normal and swallow properly.
"There is a lot we still don't know about how animals absorb, transport, and otherwise manage lipids," Farber said. "The fact that just one gene can have such a huge effect is encouraging, because it might reveal a means for treatment of human disease."
The scientists began by looking for structural defects in the mutants' digestivPage: 1 2 Related biology news :1
Contact: Dr. Steven Farber
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