Not every genetic aberration spells out disaster in the anatomy or general health of a person. As a matter of fact, some errors in a single gene could be beneficial in protecting a person against cardiovascular diseases and high cholesterol.
A recent study shows that people who have errors in a single gene could very well be more protected against heart diseases and high cholesterol. The one inactive copy of NPC1L1 gene appeared to give protection against high LDL cholesterol, also known as bad cholesterol, and coronary heart disease.
The researchers sequenced the entire genetic code of 22,000 people, and identified 34 people with specific genetic errors. Most people have two active copies of the NPC1L1 gene, but researchers found the 34 people with an inactive copy had lower levels of LDL cholesterol, according to reports.
The study suggests that the cholesterol levels of those with genetic errors were about 10 per cent lower than those with two active copies of the gene. They were also seen to have lessened the risk of suffering heart attacks.
Dr. Nathan O. Stitziel, a cardiologist at Washington University School of Medicine, said, "This analysis demonstrates that human genetics can guide us in terms of thinking about appropriate genes to target for clinical therapy."
"When people have one copy of a gene not working, it's a little like taking a drug their entire lives that is inhibiting this gene," Stitziel added.
The findings of the study published at the New England Journal of Medicine are seen to bring more improved therapies to certain illnesses.
Dr Sekar Kathiresan of the Broad Institute and part of the researching group said, "Protective mutations like the one we've just identified for heart disease are a treasure trove for understanding human biology."
"They can teach us about the underlying causes of disease and point to important drug targets," she added.
Scientists hope this discovery will help answer this question and may spur improved therapies.
Prof Jeremy Pearson, from the British Heart Foundation charity, said, "High cholesterol is a major risk factor for coronary heart disease, increasing the risk of a potentially life-threatening heart attack or stroke. That's why researchers are working hard to find new ways to treat this condition."
