Tag: "mutation" at biology news

JCI table of contents, 1 July 2004

...karyocyte differentiation, such that if there is a mutation in one copy of FLI1 during this period, the megokaryocyte will not mature properly, and will therefore ultimately be unable to produce the platelets required for blood clotting. This discovery of transient single-copy expression at an apparently crit...

Gene alteration points to longevity, thinness

...r. They were able to mimic the spontaneous genetic mutation Connecticut researchers found in the fruit fly by feeding C. elegans specially engineered bacteria that knock down the activity of Indy. Their model netted a 15-20 percent increase in lifespan in addition to the other benefits. Unlike true genetic k...

Scientist honored for studies of genetic influence on chemotherapy, tumor development

...earch focused on the relationship between p53 gene mutation status and the resistance of cancer cells to radiation and chemotherapy. Currently, he and his colleagues are beginning to assemble the genetic components of the p53 pathway into a tumor suppressor network, with the intent of discovering how oncogen...

'Mighty mouse' gene works the same way in people

...hild's extra-large muscles are due to an inherited mutation that effectively silences the myostatin gene, prov...rmal, Schuelke realized that a naturally occurring mutation in the child's myostatin gene might be the cause. Sequencing the myostatin gene from the boy and his...

Protein believed to control formation of memory identified by Scripps & UCSD scientists

...nued their work at Scripps Research, focusing on a mutation in rodents that affected a protein associated with CREB called CREB binding protein (CBP). CBP is what is known as a coactivator of transcription -- it works with CREB to control the expression of genes. CBP is sort of like a molecular haberdasher. ...

Tumour suppression

...er cancer patients have the Mus81 mutation. If the mutation can be tied to human tumour formation, it should allow people who test positive for such a gene mutation to monitor their health more closely, since they would be at high risk of developing cancer. In addi...

Scientists identify cells that lead to retinoblastoma

...ner and his colleagues discovered that the genetic mutation associated with retinoblastoma removes some of body's protective barriers at a cellular level. The result is that specific retinal cells are predisposed to becoming tumours since they already have tumour-like properties, including the ability to bypa...

How genes get us wired

...uscles." Arenkiel says it is not yet known if a mutation of the Hoxb1 gene plays a role in Mobius syndrome, but the mutant gene and the syndrome cause nearly identical symptoms. Where the Hoxb1 gene works in the face The researchers showed that in facial tissues, Hoxb1 was active not within muscle ce...

Gene mutation causes progressive changes to cell structure in children with Progeria

... June 8, 2004] Researchers today announced that a mutation of the Lamin A gene gradually causes devastating e... We now know far more about how one tiny, genetic mutation can lead to a situation in which the cell's architecture is severely and progressively damaged," sai...

LARGE protein can overcome defects in some types of muscular dystrophy

...Furthermore, although each of the cell types had a mutation in a different enzyme, glycosylation was similarly increased in all three, suggesting that increasing LARGE levels could be helpful regardless of the type of glycosyltranferase mutated in patients' cells. "At least for all the glycosylation-related ...

New laboratory model can be used to test new treatments for pediatric eye cancer

... with retinoblastoma. As a result of confining the mutation to the developing retina, the mice do not develop other types of cancer and can be bred to pass on the genetic mutations. This allows researchers to breed a large enough population to conduct drug trials. "Only about 300 children develop retinoblast...

Albany high school student adds to understanding of breast cancer gene

...hin the genetic coding that were likely targets of mutation were the same sites conserved among humans, dogs, rats and mice. Furthermore, Figge documented that among the conserved amino acids that make up the BRCA-1 protein in the four species, the amino acids that were most likely to be mutated were those th...

Single gene mutation muddying Parkinson's risk forecasts

PORTLAND, Ore. A peculiar form of a gene mutation known to increase a person's risk for Parkinson's ...out whether patients testing positive for a single mutation of the parkin gene, rather than the two mutations typically required for developing Parkinson's, can...

'Noisy' genes can have big impact

...their "noisiness" independent of the affect of the mutation itself. Noise in essential genes could be deleterious for a cell. However, noise could also produce diversity in populations of cells with the same genetic makeup, and this diversity could make them more adaptable to changes. Another effect of rando...

Researchers identify gene linked to sperm-producing stem cells in mammals

... 70s, researchers were able to position the luxoid mutation on mouse chromosome 9. Using modern methods and th...sequence, UW researchers were able to identify the mutation at a gene called ZFP145, which produces the protein PLZF. Using a fluorescent antibody against the P...

Other highlights in the May 19 JNCI

... tumor cells, and examined the effects on the gene mutation frequency and transgene loss in tumors that develo...ements had a statistically significantly decreased mutation frequency compared with tumors from mice fed no supplements. Also, transgene loss in the tumors decr...

Scientists track protein linked to movement disorder

... And how is that activity perturbed by the genetic mutation responsible for DYT1 dystonia?" Defects in other proteins found in the nuclear envelope recently have been linked to several diseases, including a form of muscular dystrophy and a neuropathy. "Like any other research, this finding has its caveats," H...

Gene discovered for Cornelia de Lange syndrome, a disabling genetic disease

...flies. The insect gene was called Nipped because a mutation in that gene produces an abnormal fly wing that lo...f the specific biological pathways by which a gene mutation affects health and development may lead to new therapies to intervene at different points along the ...

A new way to kill cancer: SLU research shows viruses can destroy lung, colon tumors

...which has been designed to kill cells that carry a mutation common in many colon cancers, efficiently killed cultured colon cancer cells, but not lung cancer cells. INGN 007 effectively killed both types of cancer cells. In an animal model of colon cancer, injection of either INGN 007 or INGN 009 into tumo...

Soybeans may reduce risk of colon cancer

...lter the function and chemistry of the cells. Each mutation a cell experiences leaves it more vulnerable to others. Cancer results when cells have accumulated a series of genetic mutations accompanied by unregulated growth. It is not known exactly how sphingolipids suppress cancer; there are probably many mec...

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