Diverse genetic abnormalities lead to NF-κB activation in multiple myeloma
...ety of sophisticated genomic techniques to examine mutations in hundreds of MM patient samples and cell lines to identify mutations that impact NF-κB activation. Dr. Louis M. Staudt from the National Cancer Institute led a re...Interaction of just 2 genes governs coloration patterns in mice
...mewhat blonder mouse, but it is the combination of mutations in both genes that produces a mouse very light in color. "Thus, two different types of mutations in two different genes each contribute to the light coloration of beach mice," Hoekstra says. "This ...Abnormal fat metabolism underlies heart problems in diabetic patients
... die young from heart failure. These children have mutations that prevent cells from producing enough cardiolipin. The connection between cardiolipin and heart disease in Barth syndrome led the Washington University researchers to wonder if cardiolipin was also affected in diabetic hearts. But in order to meas...Scientists show that mitochondrial DNA variants are linked to risk factors for type 2 diabetes
...more than 20% of type 2 diabetes cases may involve mutations in the mitochondrial genome. In the study published today, the scientists compared two different rat strains; the strains possessed virtually identical nuclear genomes but different mitochondrial genomes. This eliminated any complicating effects d...Antioxidant overload may underlie a heritable human disease
...e genetic basis for the disease had been linked to mutations in one of two genes, the mechanism responsible remained mysterious. The researchers now show that mice with one of the mutant genes, B-crystallin, specifically in the heart develop the same symptoms seen in human patients, including heart enlargeme...JCI table of contents: Aug. 9, 2007
...ls. This study raises the possibility that genetic mutations in UREs might have a critical role in the development of cancer. TITLE: A distal single nucleotide polymorphism alters long-range regulation of the PU.1 gene in acute myeloid leukemia AUTHOR CONTACT: Daniel G. Tenen Harvard Medical School, Boston...Teamwork between 2 key proteins necessary for normal development and regulation of red blood cells
... University researchers studying hemoglobin genes, mutations of which play a role in genetic blood disorders like sickle cell anemia and beta-thalassemia, have identified two proteins that are responsible for regulating overlapping groups of genes during the development of red blood cells. The findings may p...Multicenter study nets new lung tumor-suppressor gene
...of Medicine, leading the work. If tumors with LKB1 mutations are found to be especially fast-growing, for examp... increased risk for certain cancers. Non-inherited mutations of the gene have been found in some lung cancers. This suggested that LKB1 normally thwarts tumors f...Defects in critical gene lead to accelerated lung tumor growth
CHAPEL HILL Cancer causing mutations occur in our bodies every day but luckily, we hav... quarter of all human lung cancers. In mice, these mutations result in tumors that are more aggressive and more likely to spread throughout the body. Defects i...Altering a protein makes mice less fearful
... it is found in the amygdala. There are no known mutations of the ASIC1a gene linked to altered fearfulness, but the UI study raises the possibility that mutations or variations in the gene might be associated with heritability of, or predisposition for, neurotici...Penn researchers discover pathway that eliminates genetic defects in red blood cells
...he last few years that recognize specific types of mutations in RNAs. For example, the most well-described pathway is one that recognizes nonsense mutations that result in an RNA that makes a protein that is too short. Duchenes muscular dystrophy and cystic...JCI table of contents: August 1, 2007
...e. Hypomagnesemia can be an inherited disorder and mutations in any one of a number of genes have been shown cause the disorder. A new study in the August issue of the Journal of Clinical Investigation has now added the EGF gene to this list and identified why one mutation in this gene causes hypomagnesemia. ...Researchers find pathway that controls cell size and division
...t-poor environments. The Levin lab determined that mutations in genes encoding the three enzymes resulted in cells that were small even when they were in a nutrient-rich environment. Basically, the cells had no way to tell the division apparatus to wait until theyve reached the size they should be. The cells w...New model for autism suggests women carry the disorder and explains age as a risk factor
...often show the most severe symptoms. Spontaneous mutations are changes in a chromosome that alter genes. Germ-line mutations are newly acquired in a germ cell of a parent, and sometimes are transmitted to offspring at concept......ute) and colleagues report on their discovery that mutations in the mouse gene encoding PPAR adversely affect lactation milk quality, and have serious health consequences for nursing pups. By examining PPAR functions in vivo, our work reveals an unexpected link between diet, inflammation and the quality of ...Sequencing method yields fuller picture
... Kims method exploited the high rate of genetic mutations in the organism. Other organisms with high genetic variability, such as certain fish, also may be suitable. Because the human genome has a relatively low mutation rate, the method cannot be applied to people. However, Kim said, the method might...University of Colorado licenses two influenza virus detection discoveries to Quidel Corp.
...ic tests featuring the chip for use in identifying mutations that may complicate influenza treatment decisions....e a 95% success rate in the detection of influenza mutations known to result in drug resistance. The BChip was also developed at CU-Boulder, in close collabora...Researchers witness natural selection at work in dramatic comeback of male butterflies
...ournal Science. Charlat pointed out that, unlike mutations that govern such traits as wing color or antennae length, a genetic change that affects the sex ratio of a population has a very wide impact on the biology of the species. It is not yet clear whether the suppressor gene emerged from a chance mutati...CU researchers discover evidence of very recent human adaptation
...ctive pressure at the genetic level for fortuitous mutations that allow digestion of a new food source or tolerate infection by a pathogen that the population may not have faced in a previous environment."...New way to target and kill antibiotic-resistant bacteria found
... drug-resistant microbes quickly accumulate useful mutations and share them with other bacteria through conjugation the microbe equivalent of mating. Conjugation starts when two bacteria smoosh their membranes together. After each opens a hole in their membrane, one squirts a single strand of DNA to the ot...