mutation

It's not all genetic: Common epigenetic problem doubles cancer risk in mice

...by doubling the risk that a cancer-causing genetic mutation will trigger a tumor there. Roughly 10 percent of ...r of pathology and oncology. "But when the genetic mutation is present, too, we found a clear cost for what otherwise appears to be a benign effect of extra IGF...

Fox Chase Cancer Center scientists identify immune-system mutation

...etmar J. Kappes, Ph.D., has identified the genetic mutation that keeps a mouse strain from developing white bl... the CD4 protein," Kappes explained. "Instead, the mutation redirects them to the killer-cell pathway. "Our new study identifies this defect as a point mutatio...

Researchers Uncover Key Step In Manufacture of Memory Protein

...CPE gene. Future research may determine if the CPE mutation affects these individuals?long-term memory. ...

Scientists detect probable genetic cause of some Parkinson's disease cases

...e. In thesestudies, the investigators found that a mutation in the gene LRRK2appears to occur in at least one ... every 60 people who have thedisease. Overall, the mutation could be responsible for up to 5 percentof Parkinson's disease in people with a family history of th...

Mitochondrial DNA mutations play significant role in prostate cancer

...linemtDNAs harboring a known disease-causing mtDNA mutation and, as acontrol, the same mtDNA but without the d...h normal mitochondria. Hence, the deleteriousmtDNA mutation greatly enhanced prostate cancer growth.Since mitochondria make oxygen radicals as a by-product of m...

A bacterial genome reveals new targets to combat infectious disease

...metabolically critical genes have degraded through mutation to the point of uselessness. This phenomenon, called reductive evolution, is typical of long-term symbioses, as the two partners increasingly complement one another's biochemical activities. Slatko and colleagues enumerate a variety of pathways that...

BRCA1 causes ovarian cancer through indirect, biochemical route

...e paper. If that were the case, it would mean that mutation of the gene would allow the cell it's in to grow o...n that chemical signal disappears or is muted by a mutation in the BRCA1 gene, the epithelial cells don't get the message, and keep on growing and dividing. The...

Same mutation aided evolution in many fish species, Stanford study finds

...sh had one copy of the Eda gene that contained the mutation in question. It's likely that when a pocket of st...some gave rise to offspring with two copies of the mutation and no (or reduced) body armor. In a freshwater habitat those fish prospered and populated the strea...

Studies reveal methods viruses use to sidestep immune system

... Gale and his research group found that a specific mutation in the gene RIG-I conferred permissiveness to HCV, allowing it to replicate "like gangbusters" in those cells with the mutation, Dr. Gale said. He and his group determined that the protein made by the gene is essential to turning on signals that tell...

UCSD discovery may help extend life of natural pesticide

...ively, such that host resistance would require the mutation of both receptor types. This means that resistance would be exponentially less probable." ...

Research Using Mouse Models Reveals A Novel Key Player In The Initiation Of Colon Cancer

...Development. An animal model with an inactivating mutation within the mouse equivalent of the APC gene displa... environmental stress that generates a spontaneous mutation in the APC gene, mutations in the Foxl1 gene or its targets may dramatically increase the likelihood...

TEL2 gene cooperates with MYC gene to provoke B-cell lymphomas

...tes with MYC to increase the chance that a certain mutation will occur in precancerous B lymphocytes, permitting these cells to become cancerous. This mutation inactivates the function of p53, a gene that orchestrates the ability of abnormal lymphocytes to com...

Surprising findings reported about iron overload

... have the lowest prevalence of the particular gene mutation that is found in Caucasians with the typical form ...ans and Pacific Islanders have a different genetic mutation that has not yet been discovered, or that they do not, for some reason, develop hemochromatosis/iron...

Hirsute Or Hairless? Two Proteins May Spell The Difference

...icles are expendable. The product of a spontaneous mutation that caught a cat breeder's eye, le chat nu, would quickly succumb in the wild—its winter coat consists of little more than a ridge of fur down the midback and tail—and needs special care to thrive as a pet. Hairless animals in the lab, on the other ...

Wisconsin researchers identify sleep gene

...l have identified for the first time a single gene mutation that has a powerful effect on the amount of time f...is probably not a good thing. We know that the mns mutation affects mortality, but we're not sure how." In earlier studies, Tononi's team discovered that fruit...

New insight into regulation of blood stem cells

... identify the causative gene. One line mapped to a mutation in the gene c-Myb, which has a known role in regulation of blood formation. Interestingly, they found that c-Myb is not required for every step of hematopoiesis or for every type of blood cell. Instead, c-Myb is critical for very distinct steps in t...

Researchers make gains in understanding antibiotic resistance

...o the ribosome, as well as new data about how that mutation confers drug resistance. Steitz and his colleague...ion the structural basis of a particular ribosomal mutation dubbed L22 that confers resistance to macrolides such as erythromycin. In a seeming paradox, said St...

Silence the gene, save the cell: RNA interference as promising therapy for ALS

...nal function that makes it toxic to the cell. "Any mutation to the SOD1 gene is fatal to motor neuron cells," Aebischer notes. Recent research also indicates that mutant SOD1 gene expression in neighboring glial cells is also implicated in motor neuron death. Lead author Cedric Raoul and colleagues targeted ...

Super predators and mass extinctions

...pace. The model also included a term that controls mutation rates, allowing new species to develop over time. ... begins again. The period of the cycle depends on mutation rates in the model. The lower the mutation rate, the longer the periods between super predators. For...

Defenseless plants arm themselves with metals

...int in evolutionary history some plants acquired a mutation that disrupts the salicylic acid signaling pathway, leaving them unable to fight off pathogens. "In most settings, those plants would be toast - they'd be immediately selected out of the population," he said. "This whole system raises the question o...

Yeast Network Prevents Damage By Oxygen Radicals

...Huang, generated various yeast strains each with a mutation in the TSA1 gene, which results in increased production of ROS, plus a mutation in one or more genes involved in DNA repair or cell cycle control. Cell survival and accumulation of...

Biologists discover why 10% of Europeans are safe from HIV

...r some time that these individuals carry a genetic mutation (known as CCR5-delta32) that prevents the virus fr...have played a role in raising the frequency of the mutation to the high levels found in some Europeans today. Professor Christopher Duncan and Dr Susan Scott f...

First North American Encapsulated Islet Transplant without Long-term Immune Suppression into a Patient with Type 1 Diabetes

...r some time that these individuals carry a genetic mutation (known as CCR5-delta32) that prevents the virus fr...have played a role in raising the frequency of the mutation to the high levels found in some Europeans today. Professor Christopher Duncan and Dr Susan Scott f...

Bioelectronic ‘signatures?hold key to DNA mutations

...nome. Not every SNP found will necessarily cause a mutation or determine our eye or hair color ?but, on average, SNPs occur about once in every 1,000 DNA bases, adding up to 3 million potential individual differences across the human genome. Wang’s method allows for an accurate, ultra-sensitive, rapid and low...

New tumor-suppressor gene discovered

...ques helped us to narrow our search for this fly's mutation to a few candidate genes within a very small part ...rted into the molecular sequence of the gene. This mutation was a type of "transposable element" known to be able to jump to different locations along the DNA. ...

Insight into DNA's 'weakest links' may yield clues to cancer biology

... Organisms normally exhibit extremely low rates of mutation and chromosomal rearrangements. Conditions that elevate genomic instability lead to an increase in cell death and, in some cases, an increased incidence of cancer, Petes said. Earlier work by other researchers had shown that mammalian chromosomes br...

NYU and MSKCC research provides model for understanding chemically induced cancer initiation

...ccurs at special positions of the p53 gene, called mutation hot spots, which have been previously linked with ...e in a DNA model sequence similar to that in a p53 mutation hot spot. The change is brought about by the presence of a single methyl group (composed only of one...

Measuring Enzymes At End Of Cancer Pathway Predicts Outcome Of Tarceva, Taxol

...ntly available is whether lung cancer cells have a mutation in their epidermal growth factor receptor (EGFR), but that does not predict response to the targeted therapy in other forms of cancer, Ueno says. "We find here that as long as CDK2 is suppressed, the drug works, so developing an accurate test for CD...

Cellular Defects in Premature Aging Disease are Reversible

...overed that the genetic basis for HGPS is a single mutation in the gene encoding lamin A. Lamin A is a critica...er. Lamin A is defective in HGPS cells because the mutation creates an aberrant splice site in the lamin A gene; the aberrant splicing, or joining the separate ...

Supercomputers to focus brains on AIDS dilemma

...the inhibitor can flip to the east if an integrase mutation arises in the west, or to the west if a mutation arises in the east. And because emerging HIV-1 mutations have significantly reduced the usefulness o...

Unchecked DNA replication drives earliest steps toward cancer

...lications, has been what happens after the initial mutation that leads to dangerous later-stage cancers with m...ally unstable, whether they have an unusually high mutation rate. What we show in this study is that they do have a higher mutation rate than normal through thi...

Important discovery about second most fatal cancer

...on # Little evidence of tumour immunity # Frequent mutation of an oncogene called BRAF (also mutated in cancer...ore been ignored up to now. These polyps also show mutation of the oncogene BRAF and DNA methylation. It is likely that the same polyps may sometimes become mal...

To Stop Evolution: New Way Of Fighting Antibiotic Resistance Demonstrated By Scripps Scientists

...rce that drives genes. What underlies evolution is mutation -- changes in the DNA. "Mutations are the fuel for...dence for this includes the fact that the rates of mutation in some cells does not seem consistent with the mutation rates associated with DNA replication. Som...

Ancient immune defense mechanism is no match for HIV-1

...or RNAi that HIV-1 cannot elude by using the point mutation mechanism, " explains Dr. Jeang. The researchers include Yamina Bennasser and Kuan-Teh Jeang of the National Institute of Allergy and Infectious Diseases; Shu-Yun Le of the National Cancer Institute; and Monsef Benkirane of the Institut de Genetique...

Chemical Engineer Kao Explores Antibiotic Synthesis With DNA Chips

...of genes known to produce the antibiotic, but in a mutation of another gene that co-regulates the timing of ex...onmutant produces it for only one. If the specific mutation can be located, Kao reasons, perhaps it can be introduced into other antibiotic-producing bacteria t...

Mutation in clams protects against paralytic shellfish poisoning but raises human health risk

...soning (PSP), but scientists have now identified a mutation in clams that gives some protection. PSP toxins in...e presence of toxins. The report, "Sodium channel mutation leading to saxitoxin resistance in clams increases risk of PSP," was written by a team of scientists...

DOE JGI launches IMG public online microbial genome data clearinghouse

... for understanding everything from the patterns of mutation to adaptation," said Taylor. "Computational biologists have led the way, but IMG makes it possible for evolutionary biologists without first-rate computer skills to compare fungal and bacterial genomes and scrutinize fundamental processes like specia...

Researchers pioneer new gene therapy technique using natural repair process

...disease is a disorder in which blood cells carry a mutation in hemoglobin. The mutation causes the blood cells to change shape, preventing them from flowing through the blood vessels effic...

Researchers Identify Cause of Early Bird Sleep Disorder

..., issue of the journal Nature. The sleep-shifting mutation they found is in "a gene that was not previously shown in mammals to be a circadian rhythm gene," Ptacek explained. It's not yet clear how the mutant gene works to shift people's sleep time, their circadian rhythm, he added. But follow-on experiments...

Ancient DNA helps clarify the origins of two extinct New World horse species

...ry relationships: though the region undergoes high mutation rates, the patterns of mutations remain stable over thousands of generations. The mtDNA analysis of the South and North American horses provided evidence that stilt-legged horses, the Hippidion genus, and caballine, or true horses, all arose from a c...

Cancer drug slows poxvirus in mice

...es, are well known to cancer investigators because mutation of one family member, Abl, causes a rare form of cancer known as chronic myelogenous leukemia (CML). Gleevec inhibits Abl-family tyrosine kinases and has proved very useful in treating CML. To learn whether Gleevec could prevent or lessen vaccinia's...

Researchers make headway in mystery of migraines

...wer supply. "This is the first time that a genetic mutation of the sodium pump has been shown to cause disease by changing the properties of this biochemical process, rather than completely turning it off," notes Dr. Blostein. This new understanding of how genetic mutations cause migraines takes us one step c...

Any exposure to tobacco smoke during pregnancy is risky

...ure result in similarly increased rates of genetic mutation that are basically indistinguishable. "This analy...radictory results. The original studies looked at mutation rates at the HPRT gene located on the X chromosome in cord blood samples from newborns. Dr. Grant's ...

Newly discovered genetic disease sheds light on body's water balance

...n the process, they have discovered a rare type of mutation where different substitutions in a single amino ac...ance. They found that each infant has a different mutation in a specific gene, AVPR2, that encodes the V2 receptor (V2R) for vasopressin, a hormone that instru...

New insights into how Huntington's disease attacks the brain

...thin 10 to 25 years. Every carrier of the HD gene mutation will develop the disease. Each child of a parent with Huntington's disease possesses a 50 percent risk of inheriting the illness. In the United States, the disease strikes 30,000 people and places another 150,000 persons at risk. The disorder affects...

Major advance made on DNA structure

...rticular, such issues as genetic "expression," DNA mutation and repair, and why some DNA structures are inherently prone to damage and mutation. Understanding DNA structure, the scientists say, is just as necessary as knowing gene sequence. The human genome project, with its detailed explanation of the geneti...

Pinpointing the cause of a neurodegenerative disorder

...s arise because of a "genetic stutter," in which a mutation causes a particular gene sequence to repeat itself. These abnormal genetic repeats cause the resulting proteins to contain unusually long repetitive stretches of the amino acid glutamine. The new findings, which are published in the August 26, 2005,...

VCU study shows hormone-like molecule kills cells that cause inflammation in allergic disease

... reported in vivo using a mouse model. Mice with a mutation that causes them to overproduce IFNγ were use...rthermore, a separate strain of mice with the same mutation as the first strain, but that had also been engineered to prevent IFNγ production, were found t...

Climate model links higher temperatures to prehistoric extinction

... reported in vivo using a mouse model. Mice with a mutation that causes them to overproduce IFNγ were use...rthermore, a separate strain of mice with the same mutation as the first strain, but that had also been engineered to prevent IFNγ production, were found t...

Researchers track down cause of a disfiguring bone disorder

...ute in Walnut Creek, Calif., characterized a human mutation associated with the malfunctioning of the sclerost... one of the first to pinpoint a disease-associated mutation that alters one of these long-range regulatory elements. "Our study addresses a fundamental issue w...

New Discovery May Help Doctors Treat Infertility

...ovide enough information to determine if a genetic mutation may be altering the function of the estrogen receptor beta. The results of this blood test, coupled with information from other medical tests and evaluations conducted by the physician, will help diagnose infertility and better determine treatment op...

Most common lung cancers may begin in newly discovered cells

...tal therapies. The mouse carries a silent genetic mutation of an oncogene known as K-ras, which is found in a...eople. A specially designed virus can activate the mutation in only a few cells. The mouse is known as a conditional mutant strain. In this case, the mouse inha...

Scientists focus on 'dwarf eye'

...discovered what appears to be the first human gene mutation that causes extreme farsightedness. The researche...ng farsightedness. In the case of nanophthalmos, a mutation in MFRP completely wipes out the function of the protein coded for by the gene. In people with this...

Gene therapy advance treats hemophilia in mouse models

...00 males. People with the condition have a genetic mutation that leaves them with little to no factor VIII protein to prevent uncontrolled bleeding. Individuals with the severe form of the disease have less than 1 percent of the normal amount of protein. However, only a relatively small amount of the normal p...

Carnegie Mellon University research reveals how cells process large genes

...nstitutes a gene and for studying gene expression, mutation and evolution, according to Lopez. For example, recursive splicing must now be taken into account when evaluating mutations that disrupt gene expression and produce a dysfunctional or non-functional protein. "Current data indicate that at least 1...

Reversal of role for a viral protein associated with the development of lymphoma

...nstitutes a gene and for studying gene expression, mutation and evolution, according to Lopez. For example, recursive splicing must now be taken into account when evaluating mutations that disrupt gene expression and produce a dysfunctional or non-functional protein. "Current data indicate that at least 1...

Chemical 'band-aid' prevents heart failure in mice with muscular dystrophy

...and prevent heart failure in mice with the genetic mutation that causes Duchenne muscular dystrophy, according...at the University of Michigan Medical School. The mutation in the dystrophin gene causes the progressive deterioration of skeletal muscles seen in people with ...

MicroRNA tweaks protein that controls early heart development

...gene miR-1 to determine what health effects such a mutation might cause. They also are studying mice and fruit flies lacking miR-1. Dr. Srivastava said the field of microRNA studies has only recently begun to blossom. One of the key challenges is to determine which messenger RNA any given microRNA will targe...

Treatments have same target, different responses for lung cancer patients with genetic mutation

The gene mutation that identifies the lung cancer patients most likely to respond to the drug gefitinib (Iressa) is not associated with a response to the drug cetuximab (Erbitux), according to a new study published in the August 17 issue of the Journal of the Nationa...

Can two killers make a cure?

...with cystic fibrosis. The condition is caused by a mutation in the CFTR gene, and one of the problems in developing a treatment is getting a working version of CFTR into a high enough proportion of cells to restore normal lung function. While HIV is good at adding genes to cells' genomes, it does not target ...