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Tag: "mutation" at biology news

Weizmann Institute scientists discover a molecular security mechanism for keeping mutations in check

...wing them to divide and multiply while keeping the mutation rate, and therefore the cancer risk, to a minimum. ...

A new kind of mutation could explain numerous phenotypic variations in various species

...a gene and thereby cause a specific phenotype. The mutation created the appearance of an "illegitimate" microR...derived protein is to inhibit muscular growth. The mutation discovered among sheep exposed a recognition site for two miRNAs that are highly expressed in the mu...

Study provides first look at the 'birth' of a retina cell

...minate the chain of events that occurs when a gene mutation interferes with rod -- or even cone -- development. "This model may give us the earliest look yet at some devastating diseases we are all eager to cure," he says. ...

Gene linked to rare disease activates fat breakdown

... addition of normal CGI-58 in cells having the CDS mutation restores lipid breakdown and reverses the abnormal triglyceride accumulation typical of patients with the lipid storage disease. "These data establish an important biochemical function for CGI-58 in the lipolytic degradation of fat, implicating this...

Mechanism for neurodenegerative diseases linked to transport proteins

...rt in several diseases, including SBMA, in which a mutation in the receptor for testosterone leads to the loss of motor neurons. In the new study, Brady and his co-workers were able to show that polyQ-AR, the mutated protein in SBMA, caused inhibition of fast axon transport by activating an enzyme called JNK ...

Lack of key enzyme associated with development of rare tumor

...s noted that although the evidence associating the mutation in the gene for PDE11A to the development of adren...ong, the study was not capable of proving that the mutation actually caused the tumors. In their article, the researchers wrote that drugs used to treat erecti...

Researcher gives hard thoughts on soft inheritance

...of DNA is constant and only changes by rare random mutation as it is passed down the generations. But there also is evidence, especially in plants, that non-genetic factors modifying the DNA can also be inherited. The modifications of the genetic material take the form of small chemical additions to one of...

New strategy rapidly identifies cancer targets

...nce. We found that the gene, called JAK3, had a mutation that drives the growth of leukemia cells in mice,"...octoral fellow in Gilliland's lab, then tested the mutation in a mouse model. "It was important to show that the JAK3 mutation, when introduced in mice, woul...

Recombination protein dynamics observed with single monomer resolution

...teracts with many proteins, including BRCA2, whose mutation increases susceptibility to breast and ovarian cancers. A better understanding of how these proteins function could help our understanding of cancer. "Our measurement technique provides a way of counting the number of individual monomers bound to DN...

Discovery of agile molecular motors could aid in treating motor neuron diseases

...iology, researchers in Holzbaur's lab found that a mutation in dynactin leads to degeneration of motor neurons, the hallmark of motor neuron disease. This mutation decreases the efficiency of the dynein-dynactin motor in "taking out the trash" of the cell, and thu...

Study identifies new role for breast cancer susceptibility gene

...ceptibility gene BRCA1 reveals a mechanism linking mutation of BRCA1 to formation of large blood vessels neede...damage response associated with cancer initiation, mutation of BRCA1 is also linked to manipulation of the tumor microenvironment. The research appears in the J...

New findings offer more complete view of breast cancer gene mutations in US population

...tudied, the only significant predictors of a BRCA2 mutation were early age of onset (before age 45) in the patient herself or early onset of breast cancer in mother, sisters, grandmothers or aunts. "These findings underscore why women need to learn as much as they can about their family health history and t...

'Sticky' mice lead to discovery of new cause of neurodegenerative disease

...chers made their discovery by studying mice with a mutation called sticky (sti). Although named for the sti...idate gene we investigated. It seemed to us that a mutation in a gene so fundamentally important for protein translation would cause early lethality. But when w...

Cigarette smoke blocks cell repair mechanism, University of Florida study shows

...d before the cell begins to divide," he said. "The mutation then becomes a permanent part of the genome and causes genomic instability, and genomic instability can bring about several cellular dysfunctions, and one of them can lead to tumor formation." Other UF research led by Xingming Deng, M.D., Ph.D., a...

Toxic molecule may cause most common type of muscular dystrophy

...xic RNA. In 1992, Mahadevan discovered the gene mutation that causes myotonic muscular dystrophy (type 1) as part of a research group in Canada. The mutation is an increased number of CTG repeats in a gene called DMPK. Everyone with myotonic muscular dystrop...

Bones hold the key to blood renewal

...ics Department, in which the osteoclasts carried a mutation that rendered them only partially functional in the young females. They found abnormally low stem cell levels in the blood of these mice even when they tried to encourage their mobilization, giving them solid evidence of the connection. In normal mic...

Viral genetic differences are possible key to HIV dementia

...s was correlated with the presence of a particular mutation in the HIV envelope gene. The study appears in ...t exist across individuals," he asserts. Another mutation in the V3 loop appeared consistently in virus from study subjects who demonstrated the most severe c...

How can identical twins be genetically different?

...enetics. Such factors could cause a random genetic mutation or affects how DNA is packaged. "There's a lot of variability in the severity of the disease, symptoms, and the response a patient will have to treatment. Differences in the expression of genes caused by environmental factors that modify DNA have a...

Carnegie Mellon researchers discover new cell properties

...lled the nuclear lamina. Children with HGPS have a mutation in one of the proteins of the lamina shell. For years, experts have thought this mutation made their nuclei much softer and more likely to be ruptured when cells were under stress. But in a...

New pathways for autoimmune treatment identified

...16 autoimmune diseases over a lifetime. The same mutation causes a defect in i NKT cells, a type of regulatory cell that helps the immune system fight infections while suppressing errant T cells bent on attacking the body, Medical College of Georgia researchers say. This finding opens new pathways for tre...

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