Gene linked to absorption of bad cholesterol found
by: Marie Kiel P. Sandico
Quezon City Science High School
How cholesterol acts in the development of heart disease can now be determined -- thanks to the discovery of a gene linked to a rare, lethal childhood ailment.
Scientists at the National Institutes of Health and other institutions have identified a mutation in a gene associated with Niemann-Pick type C (NPC) disease. This disease commonly attacks children and kills them before the age of ten, by blocking their absorption of the bad cholesterol.
This cholesterol then accumulates in the children's brains, livers, lungs, spleens and bone marrow, causing poor muscle control, impaired eye movements, slurred speech, dementia and death.
Researcher Peter Pentchev said that only about 300 Americans have Niemann-Pick disease. He also added that the chances of acquiring this inherited disorder are about one in a million.Because of the rarity of the occurence of NPC, few are interested in studying it and funds for its research is low.
But now, with the identification of a gene governing the blockage of bad cholesterol, new doors in the research of all cholesterol-related ailments, including heart attack and stroke have been opened.
SOURCE:
1997, August. Gene linked to the absorption of bad cholesterol found. Philippine Daily Inquirer [print]
Back to What's Up? Index
