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Instead, they have a rare genetic mutation of the gene DEC2, which causes them to physiologically need less sleep than the average person. If normal sleepers were to stick to six or fewer hours of slumber, they’d start experiencing negative impacts almost immediately. Chronic sleep deprivation can even lead to health problems, including serious ones like high blood pressure and heart disease. This genetic anomaly is exceedingly rare and is only found in less than 1 percent of self-proclaimed short-sleepers. So, chances are, even if you think you have it, you probably don’t.

The study confirmed 188 previously known genetic markers of cholesterol and identified 118 new ones. The scientists subsequently chose to home in on a narrow sliver of rare genetic anomalies for further analysis through a technique called phenomewide screen, or PheWAS. That makes a good case for developing a drug that copies what the mutation does; if a faulty PDE3B gene decreases risk for heart disease, it could be promising pharmaceutical inspiration.

The discovery of the mutation and of the two women with their dazzlingly low LDL levels has set off one of the greatest medical chases ever. It is a fevered race among three pharmaceutical companies, Amgen, Pfizer and Sanofi, to test and win approval for a drug that mimics the effects of the mutation, drives LDL levels to new lows and prevents heart attacks. Heart disease remains the leading killer of Americans, causing nearly 600,000 deaths a year

Drug development for Alzheimer’s disease has been largely a disappointment over the past 10 years, says lead author Yadong Huang, MD, PhD, a senior investigator and director of the Center for Translational Advancement at Gladstone. Prospective Alzheimer’s drug builds new brain cell connections news. asp?Action Detail&PublicationID 33329&TypeID 1. Rare Mutation Ignites Race for Cholesterol Drug. Title of an interesting NYT article today.

LDL is widely known as "bad cholesterol" because it leads to buildup of harmful plaque in the arteries

But in rare cases, genetic errors also can have the opposite effect, protecting individuals with these helpful genetic mistakes from developing common diseases. While reducing cholesterol levels in the blood typically is thought to be good for the heart, Stitziel pointed out that there may be dangers to inhibiting the normal function of a gene. Not all genetic mutations that result in low cholesterol in the bloodstream are healthy.

The gene, called NPC1L1, is of interest because it is the target of the drug ezetimibe, often prescribed to lower cholesterol. The study appears Nov. 12 in The New England Journal of Medicine. They analyzed multiple existing studies, pooling data from about 113,000 people. No one had two inactive copies of NPC1L1.

Familial, often referred to as FH, is a genetic condition that causes abnormally high cholesterol levels beginning at birth

A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for MTHFR gene variant. Low thyroid hormones (hypothyroidism) Chronic conditions (obesity, diabetes, high cholesterol, physical inactivity, high blood pressure) Medications (atorvastatin, fenofibrate, methotrexate, andnicotinic acid) Dietary deficiencies (folate, vitamin B6, vitamin B12) Smoking Advanced age. Treatments and life-style changes are given based upon the patient's circumstances. I have recently been diagnosed with the C677T heterozygous gene mutation. What I would most like to know is: does this mutation have any bearing or is it something I do not need to concern myself with? See answer.

Scientists confirm that a particular genetic mutation is responsible for one type of MS and is passed down through generations. Not all people with MS have this gene mutation (the study reports that only one in 1,000 MS patients appears to have this mutation ), and not every person with this mutation will get MS. This mutation puts these people at the edge of a cliff, says senior author Carles Vilarino-Guell, an assistant professor of medical genetics and a member of the Djavad Mowafaghian Centre for Brain Health  . The first oral drug to treat SPMS is also approved for other forms of relapsing MS. Multiple Sclerosis. Good News for Those Not Fond of Time in an MRI Tube.