Mutation in Biological News

Women often opt to surgically remove their breasts, ovaries to reduce cancer risk

... 211 women with known unaffected BRCA1 or BRCA2 mutation carriers. BRCA1 and BRCA2 are hereditary gene ... mastectomy. Forty percent of the women who were mutation carriers underwent bilateral risk-reducing ... within the first two years after the genetic mutation test, but some did not make a decision until ...

Abnormal brain circuits may prevent movement disorder

... MANHASSET, NY -- Most people who carry a genetic mutation for a movement disorder called dystonia will ... has puzzled scientists since the first genetic mutation was identified in the 1990's. Now, scientists at ... for Medical Research have figured out why these mutation carriers are protected from symptoms of the ...

Study links virus to some cases of common skin cancer

... all of the virus found in tumor cells had a mutation that could enable the viral DNA to integrate into ... samples, the researchers showed that the same mutation was present in all the viruses tested from ... "That suggests that the virus may develop a mutation that causes it to integrate into host-cell DNA, ...

New research finds possible genetic link to cause of pregnancy loss and disorders

... team found that if a mother's egg cell has a mutation in just one copy of a gene, called Bub1, then she ... of a gene in a chromosome must carry the same mutation in order for an organism to be adversely effected, but the drastic effects of a single mutation were unexpected. Venkatachalam, working with ...

Toward an explanation for Crohn's disease?

... per cent of Crohn's disease patients have a mutation in what is called the NOD2 gene, but it is not precisely known how this mutation influences the disease. The latest study by Dr. ... of the normal role of NOD2, we think that a mutation in this gene prevents mycobacteria from being ...

New test can detect both genetic and chromosomal abnormalities in embryos

... been diagnosed with the cystic fibrosis gene mutation using conventional preimplantation genetic ... it is not necessary to know the exact DNA mutation that is being sought; the scientists just need to ... chunk of DNA from the parent that carries the mutation somewhere along its length, and if it matches a ...

Enzyme doesn't act alone in atrial fibrillation

... researchers bred a mouse with a specific genetic mutation in the calcium channel, making it prone to leaks. ... II. The research team found that mice with the mutation were more prone to atrial fibrillation after ... up, activating the enzyme. Mice that lacked the mutation did not suffer from arrhythmias despite having ...

A new mouse model provides insight into genetic neurological disorders

... treating the diseases. The researchers made a mutation in a protein, which is part of the protein ... are more pronounced in animals that carry the mutation in all of their protein copies. This report is ... diseases. When the researchers made the same mutation in two different breeds of mice it caused two ...

New insights into progressive hearing loss

... hearing loss. However, they each found that a mutation in a microRNA gene called miR-96 was associated ... process. "No one has seen a disease-causing mutation in the mature sequence of a microRNA," says Dr ... In the mouse, the precise role of the mutation can be ....

UNC study: Scientists identify chemical compound that may stop deadly brain tumors

... of cancer, and discovered how a particular gene mutation contributes to tumor growth. The findings and ... cells, the researchers reversed the effects of a mutation in a gene called isocitrate dehydrogenase-1 ... to tumor cells, the effects caused by the IDH1 mutation were reversed," said Yue Xiong, Ph.D., William R. ...

Therapeutic cloning gets a boost with new research findings

... and organs. Despite their comparatively higher mutation rates, however, adult somatic cells are used as ... team, which spent more than five years analyzing mutation rates and types in cloned Big Blue mouse fetuses ... "Because a random cell population exhibits a low mutation rate overall and only one cell from that ...

Genetic abnormality may increase risk of blood disorders

... that enhances the likelihood of acquiring a mutation in a gene linked to certain blood diseases. ... were predisposed to acquiring another JAK2 mutation on the same DNA strand. According to the ... 140,000 people in the US carry the JAK2 mutation and suffer from the overproduction of red blood ...

Cats' eye diseases genetically linked to diseases in humans

... with the late-onset form of the disease have a mutation in the CEP290 gene, which is the same mutation found in humans with Joubert syndrome and Leber's ... Like humans, Abyssinian cats with the CEP290 mutation have normal vision at birth but develop early ...

Mayo Clinic researchers suspect a novel gene is causing restless legs syndrome in a large family

... found in this family is likely due to a gene mutation that has never been linked to the disorder. ... syndrome, we have a lot of power to find the gene mutation causing disease," he says. Once a gene is ... can also trace the molecular route from the gene mutation to the disorder, and see if the other loci linked ...

CSHL scientists clarify editing error underlying genetic neurodegenerative disease

... uncovered important new details about how a gene mutation causes a cellular editing error that results in a ... Although scientists have known about the gene mutation that causes the disease, they haven't been able to explain why the mutation causes a defect in an essential cellular function ...

Scientists unlock possible aging secret in genetically altered fruit fly

... discovered in 2000. Back then, he identified a mutation in the Indy ("I'm Not Dead Yet") gene that can ... Helfand said. "Understanding how the Indy mutation alters the metabolic state of the fruit fly would ... the best way to try to understand how the Indy mutation might extend life span would be to study the ...

Researchers genetically link Lou Gehrig's disease in humans to dog disease

... the Broad Institute have found that the genetic mutation responsible for degenerative myelopathy (DM) in dogs is the same mutation that causes amyotrophic lateral sclerosis (ALS), ... disease, ALS. "We uncovered the genetic mutation of degenerative myelopathy, which has been ...

The heart disease mutation carried by 60 million

... is so: 1% of the world's population carries a mutation almost guaranteed to lead to heart problems and ... come from the Indian subcontinent, where the mutation reaches a frequency of 4%. Heart disease has ... others are all united by this affliction. The mutation was discovered five years ago in two Indian ...

Evolutionary process more detailed than previously believed, study shows

... evolution in real time. We're actually seeing a mutation that shows these things have adapted and seeing ... population expansions. We had one adaptive mutation that allowed a population to expand, but before ... population of the same cells acquired a different mutation that allowed it to succeed and impede the ...

Study on origin of mutation that causes fatal familiar insomnia

... Country (UPV/EHU) has studied the origin of the mutation that causes Fatal Familiar Insomnia (FFI). In the ... Country there is a high rate of carriers of this mutation 50%of all the cases registered in the whole of ... ILF is a genetic illness caused by the D178N mutation and belonging to the group of diseases known as ...

Genetic mutation causes familial susceptibility for degenerative brain disease

... CINCINNATI mutation of a gene that helps proteins migrate in and out ... Children's. Still unclear is just how the mutation leads to ANE in predisposed families and ... especially our unexpected finding that a missense mutation in part of the nuclear pore predisposes ...

UT Southwestern researchers identify gene linked to inherited form of fatal lung disease

... Medical Center have determined that a mutation in a gene known for its role in defending the ... lung disease affecting older adults. The same mutation may also be associated with lung cancer, the ... the individuals in this family who carried this mutation had not only IPF but also lung cancer, especially ...

In just 5 years, gene discovery to clinical trial of potential treatment

... relevant to understanding how the HGPS gene mutation disrupts human body cells. The head of cell ... the research team that pinpointed HGPS' genetic mutation in 2003. Just two years later, NHGRI scientists ... can prevent the cell damage caused by the gene mutation and thus might provide an effective therapy ...

The Burnham buzz

... Enzyme May Hold the Key to Muscular Dystrophy A mutation in the gene coding the protein dystrophin has ... colleagues have discovered that the dystrophin mutation causes an increase in the amount of the histone ... to return the muscle cells with the dystrophin mutation to normal histology and function. This ...

Powerful online tool for protein analysis provided pro bono by Stanford geneticist

... on evolutionary variation, of the impact of a mutation on the protein's function. A mutation in an amino acid that has changed a lot in evolution is much less likely to be bad than a mutation that affects an amino acid in which evolution has ...

M.I.N.D. Institute researchers call for fragile X testing throughout the lifespan

... of the potential impact of the fragile X mutation at different times in patients' lives," said ... "The patients don't realize that a genetic mutation is causing all of these seemingly unrelated ... into two categories: those caused by the full mutation and those associated with the premutation. The ...

Inherited genetic cause, possible treatment found for complex lung disorder

... a medical mystery and discover a familial genetic mutation that causes an inherited form of the lung disease ... surfactant in her lungs. Researchers found a mutation of the CSF2RA gene in both sisters. The mutation disrupted the signaling activity of protein ...

International team discovers gene associated with epilepsy

... brain disorder epilepsy. While the PRICKLE1 gene mutation was specific to a rare form of epilepsy, the ... data sets, we realized there was a common mutation in the PRICKLE1 gene in the family members with ... of epilepsy," Bassuk said. To verify that the mutation might be related to the epilepsy, the team needed ...

Washington University scientists first to sequence genome of cancer patient

... that promote cancer growth. In particular, one mutation was found in a gene family that also is expressed ... the mutations occurred sequentially. The first mutation gave the cell a slight tendency toward cancer, ... that it was the last one to occur. "The final mutation may represent a tipping point that causes the ...

Seasonal affective disorder may be linked to genetic mutation, study suggests

... indicates that SAD may be linked to a genetic mutation in the eye that makes a SAD patient less ... discovered mutation. "We believe that the mutation could contribute to increasing the amount of ... of the 220 participants carried two copies of the mutation that may be a factor in causing SAD, and, ...

Tick-borne encephalitis virus reveals its access code

... the five histidines, the team was surprised, that mutation of one of the histidines, His323, was sufficient to completely abolish fusion. Individual mutation of three of the others had no effect on fusion whatsoever, and mutation of the fourth led to an untestable ill-formed ...

Children's Hospital researchers identify genetic mutation that may predict organ rejection

... of Pittsburgh of UPMC have identified a genetic mutation that identifies transplant recipients who ... single nucleotide polymorphism (SNP), the genetic mutation validates the effectiveness of the system the ... known genes in another type of microarray. The mutation associated with rejection was first identified by ...

'1-hit' event provides new opportunity for colon cancer prevention, say Fox Chase researchers

... "We hypothesized that an inherited one-hit gene mutation can, by itself, lead to changes in the proteins ... Yeung says. "The 'one-hit' event makes a second mutation that much more likely to push the cell over the ... were abnormally produced in the colon of APC mutation carriers, indicating that a colon cell under the ...

K-State professor's USDA research shows mad cow disease also caused by genetic mutation

... that mad cow disease also is caused by a genetic mutation within a gene called Prion Protein Gene. Prion ... had the same type of prion protein gene mutation as found in human patients with the genetic form ... A recent epidemiological study estimated that the mutation affects less than 1 in 2,000 cattle. The study ...

Rice lab finds molecular clues to Wilson disease

... University have discovered how a small genetic mutation -- which is known to cause Wilson disease -- ... simulations and laboratory research. "The mutation that causes most cases of Wilson disease is ... at the overall puzzle to see how such a small mutation can alter the shape and function of such a large ...

NYU Langone Medical Center's tip sheet to the International Conference on Alzheimer's Disease 2008

... Alzheimer's, and the first to describe a genetic mutation in a familial form of the disease. They also ... group. Presentation # HT-3577 Genetic mutation Linked to a More Abundant Form of Alzheimer's ... CT NYU researchers found that a specific gene mutation previously associated with an increase in ...

MIT researchers offer glimpse of rare mutant cells

... in individual cells. Since the type of mutation being studied (in this case a recombination ... we are peering in at the very general process of mutation formation, persistence and clonal expansion," ... strain of mice in which DNA would fluoresce if a mutation occurred in a particular sequence. That allowed ...

The genetics of the white horse unraveled

... at Uppsala University has now identified the mutation causing this spectacular trait and show that white horses carry an identical mutation that can be traced back to a common ancestor that ... is interesting for medical research since this mutation also enhance the risk for melanoma. The paper is ...

Should embryos with a hereditary disorder be transferred if no unaffected embryos are available?

... PGD: a serious disease caused by a single gene mutation for which there are no, or limited, treatments, ... to transfer embryos found to have the targeted mutation (e.g. BRCA1 or BRCA2 genes for hereditary breast ... genetic penetrance (not all individuals with the mutation will also have the disease) and availability of ...

Drug reverses mental retardation caused by genetic disorder

... can repair learning deficits related to a genetic mutation that causes autism in humans. The same mutation in animals produces learning disorders, which we ... "Our findings suggest that mice with the mutation cannot distinguish between important and ...