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Gene linked to rare cholesterol disorder


NEW YORK, Apr 27 (Reuters Health) - Scientists have identified a gene implicated in a rare disorder that can cause young adults to develop severe heart disease.

Patients afflicted with the disorder, autosomal recessive hypercholesterolemia, develop dangerously high levels of LDL ("bad") cholesterol at a young age, usually in their 20s.

"For people afflicted with the disorder, knowing the molecular defect responsible for the disease allows for prenatal diagnosis," Dr. Helen H. Hobbs of the University of Texas Southwestern Medical Center in Dallas told Reuters Health in an interview.

The team of Italian and US scientists identified a gene that encodes a previously unknown protein that binds to LDL receptors in the liver and helps clear the cholesterol from the blood. Their findings are published in the April 26th issue of Sciencexpress, the online version of the journal Science.

In healthy people, the liver is responsible for removing LDL from the blood. But patients with autosomal recessive hypercholesterolemia are unable to clear large amounts of cholesterol from the blood due to defective LDL receptors. As a result, they are extremely vulnerable to heart disease.

Hobbs and colleagues found that individuals in four families with an inherited cholesterol disorder had mutations in the suspect gene. They also identified mutations in the same gene in several other unrelated people with high cholesterol.


  From ReutersHealth

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