Study using robotic microscope shows how mutant Huntington's protein affects neurons
... important questions about how cellular changes or abnormalities affect disease, he adds. He and his colleagues are now planning studies to examine the role of proteasomes enzyme-filled compartments that break down and recycle proteins in HD. ...Medical geneticists elected to Institute of Medicine
...gnificant contributions to identifying the genetic abnormalities and disease mechanisms in Lowe Syndrome and Parkinson disease. In addition to his branch chief roles at NHGRI, Dr. Nussbaum is an executive faculty member of the Joint NIH-Johns Hopkins University Genetic Counseling Training Program. He also administ...Single genetic defect links many risk factors for heart disease and stroke
...this relationship." Various combinations of these abnormalities affect up to a quarter of the U. S. population, and they are contributing to a public health epidemic of heart disease and stroke. Lifton said that one woman with hypertension and low blood magnesium levels proved to be the key to tracing the geneti...Pesticides may promote Parkinson's disease and exercise may offer protection
...voluntary movements, are invariably damaged. These abnormalities result in a variety of signs, including tremor, mu...ochemical changes virtually identical to the major abnormalities seen in Parkinson's disease, including degeneration of the nigrostriatal dopaminergic pathway and sy...NIH funds rare childhood disease to provide insights into the origins of adult cancer
... and other skeletal defects, heart defects, kidney abnormalities and others. With treatment, many individuals with DBA live long, active lives, and some even experience prolonged remissions during which no treatment is required. More severe cases can be fatal. The research at SCH will help doctors to better ...UCLA scientists uncork fountain of youth for HIV-fighting cells
...w at a normal rate and didn't show any chromosomal abnormalities that might lead to cancer." "We also saw that telomerase stabilized the telomere length," added Dagarag. "The telomere didn't shorten each time the cell divided, which left the cell able to vigorously battle HIV much longer." The UCLA work is the fi...Nuclear imaging offers possibility for early detection of patients with coronary heart disease
...omography may be helpful in the detection of early abnormalities in the arterial wall." They said, "These abnormalities may be the cause of future severe cardiovascular events the PET/CT scan may be potentially useful i...JCI table of contents, November 15 2004
...plastic, germ-free bubble. A number of genetic abnormalities can cause SCID. The two most common forms are linked to the X chromosome. Patients with abnormalities on this chromosome either lack an enzyme called adenosine deaminase, or lack the ability to produce ...New gene mutation found to cause 'bubble boy disease'
...n a plastic, germ-free bubble. A number of genetic abnormalities can cause SCID. The two most common forms are linked to the X chromosome. Patients with abnormalities on this chromosome either lack an enzyme called adenosine deaminase, or lack the ability to produce ...Stronger therapy better for AML with normal genetics
...th normal-looking chromosomes. Without chromosomal abnormalities to guide treatment, several therapies are usually used. "This study is important because it is the first large study to examine different types of therapy that is restricted to patients with normal chromosomes," says Krzysztof Mrzek, an intern...Genes tied to abnormal immune response in mice with lupus
...ave uncovered a link between a family of genes and abnormalities of the immune system that are associated with systemic lupus erythematosus (SLE), a devastating disease that affects over 1 million Americans. The research, published in the December issue of Immunity, significantly advances the understanding of the...Model simulates dynamics of heart rhythm disorders
...rs in the human heart. Heart rhythm disorders are abnormalities in the timing, sequence and coordination of how the heart muscle contracts. These vary in seriousness from palpitations though to disorders that are fatal within minutes. Heart rhythm disorders are one of the most frequent causes of death. Ten Tussc...Needling chromosomes yields insights into cell division
... imbalances that can lead to cancer or chromosomal abnormalities that cause birth defects." According to Nicklas, it was known that the two sister chromatids adhered to one another and released at the appropriate time during cell division. However, that understanding was based on biochemical experiments that revea...Fundamental finding yields insight into stem cells, cancer; opens door to drug discovery
...l developmental regulation and the manner in which abnormalities in that regulation can lead to cancer. Drugs that disrupt the function of beta-arrestin2 might also offer an alternative approach to cancer therapy." Another experimental system developed by the researchers -- which includes cells with fluorescently ...First 'atlas' of key brain genes could speed research on cancer, neurological diseases
...tered, the genes they control can go awry, causing abnormalities in the development or function of nerves and related structures. Although the gene regulators were pinpointed using mouse brains, the map applies to the human brain as well."This is the first systematic mapping of all of the major brain areas that sh...Brain tumor study reveals why treatment efforts fail in genetic disorder
...an normal. They also discovered they could reverse abnormalities in cells without Nf1 by decreasing K-RAS activity. K-RAS activation also mimicked Nf1 loss in live mice. Gutmann's team previously discovered that mice without Nf1 genes in their astrocytes grow an abnormally large number of astrocytes in their brai...Mouse brain cells rapidly recover after Alzheimer's plaques are cleared
...model to study disease treatments and the cellular abnormalities caused by their Alzheimer's-like condition. "For example, we'd like to know what's going wrong in the nerve cell branches that get these swellings," Holtzman says. "Is it really a cellular transport problem, or do the swellings result from the plaque...Recognizing new aneurysm syndrome can save lives
...ng congenital heart and brain defects and skeletal abnormalities such as early fusion of the bones of the skull or curvature of the spine, are seen in some patients. "It's too soon to know how common or rare the syndrome might be," says Dietz, "but we know that surgery to fix the aneurysm works if patients are ide...Bioartificial kidney under study at MCG
...neys to rid the body of waste products and correct abnormalities in blood chemistry; they don't replace kidney function, " says Dr. Szerlip. The kidneys also secrete hormones, help determine how the body metabolizes calcium and phosphorus, stimulate red blood cell production, play a role in blood pressure regulati...Heart specialists call for cardiovascular screening for all young competitive athletes
...e leading cause of sudden death in an athlete. ECG abnormalities have also been documented in the majority of athle...ct premature hardening of the coronary arteries or abnormalities in the coronary artery in young competitors, he said, because baseline ECG signs of blood flow (isch...