Genetics
Evidence Found for Genes That Affect Risk of Developing Alzheimer’s Disease
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Through one of the largest studies yet of Alzheimer’s disease (AD) patients and their brothers, sisters, and children, researchers at Mayo Clinic Jacksonville have found strong evidence that genes other than the well-known susceptibility risk factor APOE4 influence who is at risk for developing the neurodegenerative disease later in life.
Studying 25 multigenerational families of individuals diagnosed with late onset Alzheimer’s disease (LOAD), the most common form of the disorder, as well as hundreds of other participants, the research team found that blood levels of amyloid beta (Aß) proteins associated with AD were significantly elevated compared to protein found in non-blood relatives, such as spouses.
These first-degree relatives were cognitively normal and age 65 or less — many of them too young for symptoms of LOAD to show up.
Genes, parenting linked to teen depression
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U.S. researchers are using a new design that allows them to test the interaction of genetic and environmental liabilities concerning depression.
University of Notre Dame psychologist Gerald Haeffel and colleagues investigated whether a gene associated with dopamine interacted with maternal parenting style to predict episodes of depression.
Scientists associate 6 new genetic variants with heart disease risk factor
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Using new techniques for rapidly scanning the human genome, researchers have associated levels of cholesterol and triglycerides, two fats in the blood, to 18 genetic variants, six of which represent new DNA regions never before associated with the traits. The findings, appearing in the January 13 advance online issue of Nature Genetics, help explain some of the variability in cholesterol and triglyceride levels that arises from genes. With the potential to help predict a patientТs genetic risk of heart disease, the six new loci may point to novel aspects of cholesterol metabolism and could also spur new cholesterol-lowering drugs.
Heart disease is a leading cause of death around the world. Researchers have known for decades that one of the strongest predictors of heart disease risk is the level of cholesterol in the blood. While differences in lifestyle, such as diet and exercise, can influence a personТs cholesterol levels, differences in genes can too. Some of these culprit genes are already known, but it is clear that many others remain to be found. УBy uncovering the genetic determinants of cholesterol levels and, in turn, heart disease risk, we may be able to identify high-risk patients who can benefit from early interventions, in addition to expanding our knowledge of cholesterol biology and opening doors to new treatments,Ф said first author Sekar Kathiresan, director of preventive cardiology at Massachusetts General Hospital and a genetics researcher in the Program in Medical and Population Genetics at the Broad Institute of Harvard and MIT.
Two Genes Are Important Key to Regulating Immune Response
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A research team at Weill Cornell Medical College in New York City has identified two genes that may be crucial to the production of an immune system cytokine called interleukin-10 (IL-10).
The discovery fills in an important “missing link” in a biochemical pathway that’s long been tied to disorders ranging from lupus and Type 1 diabetes, to cancer and AIDS.
Family history a risk factor for asthma death
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An analysis of genealogy records linked to death certificates in Utah suggests that the risk of dying from an asthma attack is hereditary.
Dr. Craig C. Teerlink and associates at the University of Utah in Salt Lake City identified 1553 asthma-related deaths in a registry of all Utah deaths since 1904.
Genograms Connect Family Tree to Health Risks
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Everybody knows that family history can be a major predictor of the health issues each of us may someday face. But few of us have all the information we need to get a true picture of our family health history.
According to Dr. Raeann Hamon, a professor of human development and family science at Messiah College in Grantham, Pa., one way to connect all the dots is to create a genogram to assess family heath.
Study Reveals Possible Genetic Risk for Fetal Alcohol Disorders
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New research in primates suggests that infants and children who carry a certain gene variant may be more vulnerable to the ill effects of fetal alcohol exposure.
Reported online today (Sept. 21) in Biological Psychiatry, the findings represent the first evidence of a genetic risk for fetal alcohol spectrum disorder - a condition that is characterized by profound mental retardation in its most severe form, but which is also associated with deficits in learning, attention, memory and impulse control.
One gene may be key to coveted perfect pitch
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Musicians and singers work for years to develop their sense of pitch but few can name a musical note without a reference tone. U.S. researchers on Monday said one gene may be the key to that coveted ability.
Only 1 in 10,000 people have perfect or absolute pitch, the uncanny ability to name the note of just about any sound without the help of a reference tone.
Common gene mutations affect heart disease
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Researchers say they have pinpointed six common genetic variations that may cause heart disease and the discovery may help to predict who is at greatest risk.
A study published on Wednesday in The New England Journal of Medicine said changes in the DNA on the chromosomes were associated with increased risk of developing coronary artery disease and heart attacks.
Gene linked with childhood asthma is identified, giving hope for new therapies
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A gene that is strongly associated with a risk of developing childhood onset asthma is identified in new research published online today in Nature.
In a genetic study of more than 2,000 children, scientists established that genetic markers on chromosome 17 had a striking effect on the risk of asthma in children. They also found that these markers altered the levels of a new gene called ORMDL3, which was at a higher level in the blood cells of children with asthma than in those without.
Genetic disease carries risk of sudden deafness
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People diagnosed with a genetic disease called von Hippel-Lindau disease or VHL may suddenly experience hearing loss caused by a tumor, researchers advise in this week’s Journal of the American Medical Association.
VHL disease is characterized by the development of tumors in blood vessels in the retina of the eye and in the brain. Lesions and cysts can also develop in other parts of the body.
Gene Variations Link Inflammation and Increased Lung Cancer Risk
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Variations in two genes related to inflammation may be a major risk factor for developing lung cancer, according to a team of scientists from the National Cancer Institute and the University of Texas M. D. Anderson Cancer Center. The effect of these genes is especially strong among heavy smokers, suggesting that the inflammatory response is important in modulating the damage caused by tobacco smoke.
Their study, published in the July 1 issue of Cancer Research, a publication of the American Association for Cancer Research, is the first to pinpoint the mechanism by which damage to the lung might trigger an overzealous inflammatory response by the immune system, leading to lung cancer.
Genetic mutations raise heart rhythm problem risk
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Two genetic mutations have been identified that increase the risk of a common heart rhythm problem linked to stroke, according to researchers who have developed a test to identify people who have them.
Writing on Sunday in the journal Nature, scientists scanned the genes of thousands of people from Iceland, Sweden, the United States and Hong Kong to find these two common mutations tied to much higher risk for atrial fibrillation.
Promising results from first gene therapy clinical trial for Parkinson’s disease reported
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In what could be a breakthrough in the treatment of neurological disease, a team led by physician-scientists at NewYork-Presbyterian Hospital/Weill Cornell Medical Center has completed the first-ever phase 1 clinical trial using gene therapy to battle Parkinson’s disease.
The study of 11 men and one woman with the progressive neurodegenerative illness found that the procedure—in which surgeons inject a harmless gene-bearing virus into the brain—was both safe and resulted in improved motor function for Parkinson’s patients over the course of one year. The findings are published in the June 23 issue of The Lancet.
Experimental gene therapy ‘abolishes’ arthritis pain and lessens joint damage
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Early-stage research has found that a new gene therapy can nearly eliminate arthritis pain, and significantly reduce long-term damage to the affected joints, according to a study published today in the journal Arthritis and Rheumatism. While the study was done in mice, they are the first genetically engineered to develop osteoarthritis like humans, with the same genetic predisposition that makes some more likely to develop the disease, the authors said. If all goes well with a follow-up study currently underway, researchers will apply to the U.S. Food and Drug Administration for permission to begin human trials next year.
Nearly everyone aged 65 or older suffers from the pain, swelling and permanent joint damage of osteoarthritis. The most common form of arthritis, it develops over time following initial joint injuries or just as a result of aging. In the current study, researchers found that one injection of a newly designed gene therapy relieved 100 percent of osteoarthritic pain in the study model. In addition, researchers were surprised to find that the therapy also brought about a nearly 35 percent reduction in permanent structural to joints caused by round and after round of osteoarthritic inflammation.
