Genetics
Leukemia gene normally has mammary gland function
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A gene critical for normal mammary gland function during nursing helps trigger highly lethal leukemias when it undergoes a mutation that fuses it to another gene, according to investigators at St. Jude Children’s Research Hospital.
The discovery of the gene’s normal function and that its only major role involves the mammary glands suggests that drugs that might be developed in the future to treat it could also be given to leukemia patients with few serious side effects.
Discovery of gene mutation gives hope for Down syndrome and Alzheimer’s victims
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Researchers in the U.S. have discovered a gene mutation that shrivels brain cells which they suspect is responsible for the mental retardation seen in Down syndrome.
The believe the discovery may offer ways to interfere with or even reverse the mental deterioration often seen as people with Down syndrome get older and may also be applicable to patients with Alzheimer’s disease.
Dr. William Mobley, a neurologist with the Stanford University School of Medicine and Lucile Packard Children’s Hospital in California, the senior author of the research, says the reducing the expression of the gene turns down its activity.
Sperm donor passes rare dangerous disease on to four children
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According to a new report in the U.S., a sperm donor may have unwittingly passed an extremely rare and dangerous genetic ailment to five children born to four couples.
The case has served to highlight gaps prevalent in the screening process.
The very rare disease, severe congenital neutropenia, can be fatal in children if untreated but it’s very rarity means that sperm banks do not screen for it.
New Gene Reduces Retinal Degeneration in Fruit Flies
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Johns Hopkins researchers have discovered a gene in fruit flies that helps certain specialized neurons respond more quickly to bright light. The study, published in the April 4 issue of Current Biology, also has implications for understanding sensory perception in mammals.
In teasing apart the molecular interactions and physiology underlying light perception, the researchers studied a gene they dubbed “Lazaro” that is expressed 15 times higher in the fly eye than the rest of the fly head. They found that this gene is required for a second biochemical pathway that controls the activity of a protein called the TRP channel. TRP channels are found in fruit fly neurons responsible for sensing light. The fly TRP channel is the founding member of a family of related proteins in mammals that are essential for guiding certain nerves during development and for responding to stimuli including heat, taste and sound.
Weill Cornell experts publish review of genetic medicine
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In an article published in the April issue of Nature Reviews Genetics, two experts at the Weill Medical College of Cornell University sum up the achievements, challenges and promise of a burgeoning field: genetic medicine.
“There have been some real success stories since the human genome was sequenced in 2001, but some disappointments, too, and real hurdles yet to be overcome,” says co-author Dr. Ronald G. Crystal, the Bruce Webster Professor of Internal Medicine and Chairman of the Department of Genetic Medicine at Weill Cornell Medical College.
“However, the purpose of this paper is to highlight the nearly limitless potential of this technology, which is still in its infancy,” he says.
Coffee good or bad for you? It depends on your genes!
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According to a new study, depending on your genes, the caffeine in coffee is either good for you or bad for you.
The link between coffee intake and the risk of heart attacks is a controversial issue.
Scientists know that coffee, a major source of caffeine, is metabolized by the enzyme, cytochrome P450 1A2, and some individuals who have that particular gene are “rapid” caffeine metabolizers, whereas those with a different variation of the gene are “slow” caffeine metabolizers.
Taste genes may yield important information about who smokes and why they smoke
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Recent research on the genetics of smoking has focused on genes that are thought to be related to nicotine metabolism, personality traits, and regulation of emotions.
According to a genetic study just published in “Nicotine and Tobacco Research,” genes responsible for taste also may yield important information about who smokes and why they smoke.
Researchers from the University of Wisconsin-Madison and University of Utah wanted to determine if a “bitterness” gene-phenylthiocarbamide (PTC)-was related to smoking status and how important the taste of cigarettes is to a smoker. As predicted, those smokers who possessed less sensitivity to bitter taste were more likely to rate taste as a strong reason for smoking, and those who were sensitive to bitter taste were less likely to smoke for taste.
Genetics of human muscular dystrophy
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Various forms of human muscular dystrophy result from mutations in genes encoding proteins of the nuclear envelope. A new paper in the February 15th issue of G&D reveals how.
Ten human hereditary laminopathies, including Emery-Dreifuss muscular dystrophy (EDMD), are associated with mutations in the LMNA gene that codes for the nuclear filament proteins, lamins A and C. Dr. Brain Kennedy and colleagues at the University of Washington have used a mouse model of EDMD to elucidate the mechanism by which altered expression of A-type lamins causes progressive muscular degeneration.
It’s in the genes: Study opens door to new treatment of the blues
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A Florida State University scientist used a gene transfer technique to block the expression of a gene associated with clinical depression in a new study of mice that could lead to better treatment of human beings with this condition.
Carlos Bolanos, an assistant professor of psychology and neuroscience, was among a team of researchers that identified the role of a gene called Brain Derived Neurotrophic Factor (BDNF) in the development of social aversion. Mice treated with a transfer technique to block expression of the BDNF gene in a small area of the mid-brain did not develop the aversion despite repeated encounters with aggressive rodents. The study will be published in the Feb. 10 issue of the journal Science.
Is High Blood Pressure in Your Genes?
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Eighty-year-old Cleo Upell of Tecumseh, Mich. has high blood pressure. So do three of her daughters - and at least one of her granddaughters.
Families like the Upells are all too common in the United States, where one in four adults has high blood pressure, also known as hypertension. If untreated, the problem creates a much greater risk of heart disease and stroke.
Study confirms location of potential autism gene
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In another step toward unraveling the origins of autism, a new study confirms that a region of chromosome number 3 seems to be involved in the development of the disorder.
There was no evidence, however, that mutations in one suspect gene increase the risk of autism.
Analyzing DNA from 31 members of a family of Northern European ancestry in which 7 individuals had autism or an autism-related disorder, researchers found that a portion of chromosome 3 appeared to be linked with the disorder.
Study finds why Jewish mothers are so important
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Four Jewish mothers who lived 1,000 years ago in Europe are the ancestors of 40 percent of all Ashkenazi Jews alive today, an international team of researchers reported on Friday.
The genetic study of DNA paints a vivid picture of human evolution and survival, and correlates with the well-established written and oral histories of Jewish migrations, said Dr. Doron Behar of the Technion-Israel Institute of Technology, who worked on the study.
Altered cells deliver Parkinson’s therapy to brain
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Genetically modified nerve ‘progenitor’ cells can be used as mini-pumps to deliver nerve growth factor to the brain, a new study in animals shows.
The results suggest such an approach could be used to treat Parkinson’s disease and other brain diseases in humans, Dr. Clive D. Svendsen of the University of Wisconsin-Madison and colleagues report.
Successful aging may be partly in the genes
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If you make it to a ripe old age with all your marbles, credit might go to the gene you inherited.
Researchers have identified genes related to reaching age 90 with preserved brain function. Their study, funded by the National Institutes of Health and reported at a medical conference in Hawaii, is among the first to identify genetic links to long-lived mental powers.
Gene therapy tackles hereditary spastic paraplegia
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Elena Rugarli and colleagues from the National Neurological Institute in Milan have used gene therapy to save sensory and skeletal muscle nerve fibers from degeneration in mice with hereditary spastic paraplegia (HSP).
This strategy, reported online on December 15 in advance of print publication in the January 2006 issue of the Journal of Clinical Investigation, holds promise for many other disorders characterized by nerve degeneration due to loss of function of a known gene.
