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Defective in Biological News

Repair in the developing heart

... when all cells in the heart were affected by the defective energy production. However, the animals that ... altered female mice have an X chromosome with the defective Hccs gene and one with the intact Hccs gene. ... manages to improve the ratio of healthy cells to defective cells from the original 50:50 ratio. ...

Newly identified role for 'power plants' in human cells could lead to targeted therapies

... mitochondria. If the mitochondrial tRNA genes are defective or missing, and proteins are not manufactured, ... are unable to generate adequate energy. defective tRNAs are believed to be the cause of about 60 ... attempts to introduce healthy tRNAs to the defective mitochondria of ill patients, Alfonzo said. ...

Yale study shows how rare genes have big impact on blood pressure

... low blood pressure levels when inherited with two defective copies (one from each parent). The researchers speculated that people who carry only one defective copy might be less prone to hypertension. ... found that 2 percent of the subjects carried one defective copy of one of the three genes. These individuals ...

Rare genetic mutations protect against hypertension

... pressure caused by recessive mutations, where two defective copies of a gene are at play. Salt handing is ... that nearly 2 percent of the FHS cohort has a defective copy of one of these three genes, Lifton said. ... Bartter syndromes, these subjects have only one defective copy, not two. Lifton's group then tracked the ...

RNA interference therapy heals growth deficiency disorder in a live animal

... that has been genetically engineered to express a defective human hormone that interferes with normal growth. When the gene that produces the defective human growth hormone is inserted into the mouses ... a dominant negative disorder. It is caused by a defective form of human growth hormone that not only cant ...

Life-threatening gene defect located by UT-Houston researchers

... Texas Medical School at Houston has identified a defective gene that affects vascular smooth-muscle cells in ... tear. Family members who test positive for the defective gene are encouraged to have routine imaging of ... children who are being tested for carrying the defective gene. Bryant has no children. What shocked me ...

Cilia: small organelles, big decisions

... extend their tails - they were able to track to defective Wnt signaling. Katsanis notes that once ... in the canonical branch to prevent excess growth. defective ciliary function therefore leads to defective destruction of key proteins, which then causes ...

New research findings may enable earlier diagnosis of uterine cancer

... or radiation or due to inherited changes. This interaction between defective genes and environmental factors means that cancer is an extremely complex ... of Cell and Molecular Biology, has used inbred rats to locate the defective genes that cause uterine cancer. Like monozygotic (identical) twins, these ...

Attitudes towards assisted reproduction and preimplantation genetic diagnosis

... with serious genetic diseases can select embryos that do not carry the defective gene (mean scores above 6 points in all cases on a scale from 0 to 10, ... some genetic disease can select embryos that are not affected by the defective gene and conceive a healthy, compatible child that can help cure its ...

Repairing DNA damage: Researchers discover critical process in cancer treatment

... is the key that turns on the repair machinery." ATR-mediated NER often defective in tumour cells The scientific team used cultured lung cells to ... a PhD student at the Universit de Montral. Any tumours identified as defective in ATR-mediated repair are expected to respond extremely well to ...

Discovery of a mechanism that regulates cell movement

... cells in a tissue by regulating cell adhesion. This same mechanism may be defective in diseases such as cancer and its metastasis, when tumour cells lose ... cancer will be able to use animal models to test whether this mechanism is defective in other kinds of tumours and to study whether any of its genetic ...

RevGenUK, a 'single-stop' shop for use in functional genomics

... mutant genes. Researchers can work out a genes function by studying a defective copy of the gene and seeing how this affects the plant. This is known as ... will maintain large populations of mutated plants with thousands of defective genes. Specialised technology is then used to find a gene of interest and ...

Work with power grids leads to cell biology discovery

... of genes, forcing the cell to either bypass the functions affected by the defective gene or to compensate for the lost function. The research, led by ... hours of instability. And the same could be valid in biology, where a defective gene may trigger a cascade of failures along the cellular network, said ...

Why the switch stays on

... cells. "The switch only gets stuck on when Raf is present and the defective Ras has position 61 as a leucine or one of the few amino acids shown to ... now know that at least part of that something is the Raf protein. When the defective Ras encounters Raf, the switch becomes inaccessible and the highly ...

Story ideas from the Journal of Lipid Research

... Researchers have found a potential new and improved avenue for treating defective bile acid absorption, a primary contributor to chronic diarrhea. ... The researchers fed a synthetic FXR target to engineered mice with defective bile absorption and found that treatment increased the FGF15 activation ...

Plants can be used to study how and why people respond differently to drugs

... molecule to it. They also found that in plants that had a genetically defective UGT, hypostatin did not work properly because no sugar molecules ... that seen in humans, where altered drug sensitivity can occur because of defective or atypical sugar-tagging proteins, Cutler said. His lab made the ...

Seattle Children's Hospital leads $23.7 million NIH grant to study gene repair

... an innovative approach to gene therapy. Gene repair involves manipulating defective sequences of DNA in a targeted gene to change them to the correct ... it will be possible to remove a patients existing blood stem cells, repair defective genes in these cells, and then return them back to the same patient once ...

La Jolla Institute discovers novel tumor suppressor

... He and his team set out to investigate further, choosing to focus specifically on myeloproliferative disease because almost all of the mice with a defective PLC-beta 3 gene eventually developed severe myeloproliferative disease. The team determined that tumor production hinged on the PLC-beta 3's ...

Little-known protein found to be key player

... membrane tubes and chambers that's critical for normal cell function. The tests also showed too little atlastin led to a fragmented ER. Flies with defective atlastin were sterile and short-lived. "The endoplasmic reticulum is an ever-changing environment," McNew said. "It grows. It retracts. It ....

Bad mitochondria may actually be good for you

... Mice with a defective mitochondrial protein called MCLK1 produce elevated amounts of reactive oxygen when young; that should spell disaster, yet according to a study in ...

Preimplantation genetic diagnosis may pose neurological risks

... couples that may be carriers of genetic disease (e.g. Ashkenazi Jews who have a high incidence of Tay-Sachs among their population) don't pass on defective genes to their children. While PGD is not believed to pose any serious health risks, the procedure does involve manipulating the developing embryo ...

Munich researchers discover new target for tailored antibiotics

... examination of the reaction mechanism using computer simulation and mutagen experiments, in which E. coli bacteria are coerced into synthesizing defective IspH enzymes. Thus, the X-ray structure, kinetic measurements, and mutagenic analyses ultimately confirmed the unusual arrangement of three iron and ...

The downside of microtubule stability

... to production of faulty dynamin 2, a protein that is crucial for endocytosis but also latches onto microtubules. Tanabe and Takei investigated how defective dynamin 2 hampers cells. Normal microtubules are continually extending and shrinking. But microtubules from cells that made the faulty version of ...

Muscle atrophy through thick but not thin

... cell. It was unclear when and how ubiquitylation was involved in disassembling skeletal muscles. The researchers triggered atrophy in mice containing defective MuRF1 (lacking its RING-finger domain crucial for ubiquitylation). These mutant mice break down less muscle than wild-type mice, and less ...

Combined stem cell-gene therapy approach cures human genetic disease in vitro

... cancer and other serious health conditions. After taking hair or skin cells from patients with Fanconi anemia, the investigators corrected the defective gene in the patients' cells using gene therapy techniques pioneered in Verma's laboratory. They then successfully reprogrammed the repaired cells ...

Gladstone scientists identify key factors in heart cell creation

... shown that chromatin remodeling complexes were important," said Dr. Bruneau. "Mice with lower levels of these complexes have severe heart defects and defective cardiac differentiation. These observations prompted us to look at Baf60c in heart differentiation." The effect was dramatic. Addition of the ...

2009 ASPB Summer Undergraduate Research Fellowship award announcement

... Eric Johnson, University of Massachusetts Amherst Mentor: Alice Cheung Probing Intracellular Hydrogen Peroxide Condition in Wild type and Mutants defective in Stress-signaling I hope to finish up my current research by the end of my senior year. This will help to characterize the pathways in plants that ...

Red pandas reveal an unexpected (artificial) sweet tooth

... receptor structure. As expected from the previous findings, the lion did not prefer any of the sweet solutions. This could be explained by its defective Tas1r2 gene, which prevents the lion from expressing a functional sweet taste receptor. With no sweet receptor, the lion is unable to detect or ...

New therapeutic strategy could target toxic protein in most patients with Huntington's disease

... mutant gene makes a toxic protein that contains excess amounts of the amino acid glutamine. The key to whether the Huntingtin gene is normal or defective lies in a kind of genetic stutter: a repetitive sequence of the DNA triplet CAG, which codes for the amino acid glutamine. Stretches of CAG "repeats" ...

Gene therapy appears safe to regenerate gum tissue

... where it shows potential are periodontal disease and diabetic wounds. Maybe the reason for this is that both diseases result from a compromised or a defective healing environment." The next step for the U-M team is to use the new gene delivery approach in human clinical trials, Giannobile said. The ...

A paradigm shift in immune response regulation

... chain is crucial for nuclear factor kappa B activation. Their findings may also contribute towards structure-based drug design to target the defective NF-κB pathway in diseases such as cancer, inflammation and immunodeficiency. The body's first line of defence against bacteria and viruses ...

Research yields potential target for cancer, wound healing and fibrosis

... by which the beta-1 integrin controls the many functions that it regulates is critical to designing drugs that are specific enough to block defective functions of the integrin while simultaneously maintaining normal activities of the integrin in healthy tissue," said Dr. Green. ...

Cellular discovery may lead to targeted treatment for rare form of anemia

... a protein that normally functions to trigger "cell suicide" in response to severe cellular damage, therefore protecting the body from overgrowth of defective cells. Previous research has attributed p53 activation to the passive diffusion of ribosomal protein L11 from the nucleolus, the part of the ...

Study offers clues to beating hearing loss

... offered assistance in managing their disabilities. Dr Peckham says: "Our studies on how normal myosin 7 works pave the way for understanding how a defective myosin 7 protein in Usher patients results in deafness." ...

Cutting-edge amfAR grants fight HIV/AIDS in the lab and on the phone

... He is particularly interested in identifying those regions of TRN-SR2 that interact with the HIV protein integrase. His additional studies to create defective versions of TRN-SR2 will test the suitability of this protein interaction as a new target for drug development. Fedde Groot, Ph.D./Mentor: ...

Reducing animal experiments through top-class research

... assay (IVIM) method developed by Professor Baum and his team helps improve the chances of success for gene therapy. This aims to repair defective genes by introducing intact genes, which it is hoped that it will be possible to treat metabolic diseases or severe immunodeficiencies, for instance. ...

Major step for drug discovery and diagnostics

... . Membrane proteins are located at the surface of cells and they have a very important role in the communication between the cells in our body. defective membrane proteins are involved in diseases such as cancer, cardiovascular diseases and neurological diseases, just to mention at few. The researchers ...

Gene therapy demonstrates benefit in patients with rheumatoid arthritis

... as a means of treating genetic diseases, such as cystic fibrosis and hemophilia, gene therapy involves implanting a normal gene to compensate for a defective gene in the patient. The first clinical trial to test gene therapy was launched in 1990 for the treatment of a rare, genetic immunodeficiency ....

Mayo Clinic: Brain disorder suggests common mechanism may underlie many neurodegenerative diseases

... parent carries a copy of a mutant gene. With the help and participation of eight families with Perry syndrome, the Mayo-led team set out to find the defective gene. They determined that each family had one of five novel mutations in the DCTN1 gene, whose protein produces a large subunit of the dynactin ...

Potential therapy for congenital muscular dystrophy

... of Medicine examined the response to muscle damage in alpha 7 integrin-deficient mice. They found that alpha 7 integrin-deficient muscle exhibited defective muscular regeneration. Injection of laminin-111, however, restored muscle repair and regeneration. The data from Rooney et al "indicate a ...
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