Combination of gene therapy and gene silencing prevents neurodegenerative disease
.... In these dominantly inherited diseases, a single mutated gene inherited from either parent produces a protein that is toxic to cells. Thus, a successful therapy must remove or suppress the disease-gene rather than simply add a corrected version. "Although we know how to put genes into cells, the difficulty...JCI table of contents, 1 July 2004
...here the disease state in the presence of a single mutated gene cannot be explained by interference of a biological pathway by a mutant gene product. An accompanying commentary by Ramesh Shivdasani, from the Dana-Farber Cancer Institute, covers bleeding disorders in general, then focuses on how the specific ......he wait. Mullins uses a process in which genes are mutated at random with a chemical mutagen to determine what genes are required for a particular process of interest. This is opposed to reverse genetics, where there's a particular gene of interest, which is then knocked out to determine its function. The mo...A protein's role in progressive renal disease
...onent of muscle and cytoskeleton. Having a single mutated copy of the gene can cause FSGS in humans, though it is unclear how. In this issue of PLoS Biology, Martin Pollak and his colleagues at Brigham and Women's Hospital at Harvard Medical School use a three-pronged approach to figure out how the defectiv...JCI table of contents, 15 June 2004
...n develop through the interaction of more than one mutated gene, and currently there are no good models avail... one that over-expressed c-Myc; one that carried a mutated form of Bcl-XL; and one that carried altered forms of both genes. Although some of the characteristi...LARGE protein can overcome defects in some types of muscular dystrophy
...lpful regardless of the type of glycosyltranferase mutated in patients' cells. "At least for all the glycosylation-related muscular dystrophies, we think that LARGE may be able to restore the function of alpha-dystroglycan. This has potential for developing therapy for a group of muscular dystrophies. If we...U. Iowa muscular dystrophy discovery may lead to new treatment approaches
...ts in these muscular dystrophies. LARGE protein is mutated in patients with congenital muscular dystrophy 1D. In the Nature Medicine article, Campbell and his colleagues examined the effect of restoring expression of LARGE in mice that lacked the protein and found that gene transfer of the protein into this ...Albany high school student adds to understanding of breast cancer gene
...ecies, the amino acids that were most likely to be mutated were those that are hydrophobic. Mutated BRCA-1 pr... risk for a woman who carries specific versions of mutated BRCA-1 gene. ...Junk DNA yields new kind of gene
...active RNA polymerase and SER3 repression, Martens mutated it. "We no longer saw the RNA, and we found transcription of SER3 was de-repressed," he said. "That is when we thought, 'OK, we have got a new regulatory gene.'" After characterizing SRG1, which turned out to be 550 base pairs long, they tackled the ...Fox Chase discovery may help physicians diagnose, treat devastating childhood disease
...or B (EDNRB), one of the primary genes known to be mutated in Hirschsprung disease"Now it appears that mutations in genomic sequences involved in regulating EDNRB could explain Hirschsprung disease as well," said Shin. "Our results in mice strongly suggest that the regulatory region we've discovered is a pr...Clemson researcher receives Komen grant
...cer is likely due to, in some cases, the fact that mutated breast cells produce PRL as their own survival-gro...y Research Institute, Chen has demonstrated that a mutated PRL, called PRL antagonist (G129R), is able to bind specifically to breast cancer cells and block th...Scientists find second way to kill cancer cells: Discovery opens possibilities for new therapies
...r the tumor suppressor gene p53, the most commonly mutated gene in human cancer, or two key proteins essential for the execution of apoptotic cell death, Bax and Bak. The researchers then determined whether any standard chemotherapeutic drugs could kill these cells. They discovered that some commonly used ...Second generation targeted antibodies - It's all in the binding
...e. The antibody was initially intended to target a mutated form of EGFR and was being developed as a treatment for brain tumors called glioblastomas. However, during comprehensive pre-clinical analyses it was found that the 806 antibody bound not only to the glioblastoma-specific mutant form of EGFR, it also...Analysis uncovers critical stretches of human genome
...ncies that these foundational elements couldn't be mutated any more without disrupting something vital," said Haussler. Besides the fact that the purpose of the non-coding ultra-conserved elements remains unknown, said Haussler, the researchers also do not understand the molecular mechanism of their action t...March of Dimes awards $250,000 prize to pioneering scientist
...at most females who inherit an X chromosome with a mutated gene do not show signs of the disorder associated with that mutation? For example, the bleeding disorder hemophilia is caused by mutations in clotting factor genes that are located on the X chromosome. The disease occurs in abou...Kinase backgrounder: Iressa discovery part of major kinase project at Dana-Farber
...es that produce the proteins. As they discover new mutated kinases, the scientists will disseminate the findings so that pharmaceutical companies can match them with inhibitors already on the shelf. Development of these drugs has sped forward in recent years after it became evident that blocking kinase-stimu...Study identifies which patients can benefit from targeted lung cancer drug and why
...e of Technology's Broad Institute are hunting for mutated genes that instruct cells to produce abnormal vers...mple of a drug that works by targeting a specific, mutated tyrosine kinase," says William Sellers, M.D., who is co-senior author of the study with his Dana-Far...Technique plucks rapidly evolving genes from a pathogen's genome
...to tell which codons were more likely to have been mutated into a codon for a different amino acid. By counting, for example, the frequency of the six codons coding for arginine in a single gene, and comparing it to the frequency throughout the full genome, the researchers are able to determine whether the ...UCSD finds genetic time bomb in heart that leads to heart failure in some patients
...ther forms of congenital heart disease, with other mutated genes, that are linked to late stage arrhythmias in heart failure, in spite of surgical corrections. "We think we may have uncovered, conceptually, the mechanistic paradigm for this important form of human heart failure," Chien said. "......activity is integrally involved in cell growth and mutated forms of the gene occur in acute leukemias. Using... all the time. The result was that mice with this mutated PASG protein showed signs of premature aging and profound growth problems, including low birth-weigh...