Mutation in Biological News

Scientists discover gene mutation responsible for hereditary neuroendocrine tumor

SALT LAKE CITY University of Utah researchers and their colleagues have identified the gene that is mutated in a hereditary form of a rare neuroendocrine tumor called paraganglioma (PGL). The gene, called hSDH5, is required for activation of an enzyme complex that plays a critical role in the che...

Stowers researchers develop whole genome sequencing approach for mutation discovery

The Stowers Institute's Hawley Lab and Molecular Biology Facility have developed a "whole-genome sequencing approach" to mapping mutations in fruit flies. The novel methodology promises to reduce the time and effort required to identify mutations of biological interest. The work was published in t...

Gene mutation increases drug toxicity, rejection risk in pediatric kidney transplants

CINCINNATI Screening for mutations in a gene that helps the body metabolize a kidney transplant anti-rejection drug may predict which children are at higher risk for side effects, including compromised white blood cell count or organ rejection, according to new research. Published online Feb. ...

The heart disease mutation carried by 60 million

Heart disease is the number one killer in the world and India carries more than its share of this burden. Moreover, the problem is set to rise: it is predicted that by 2010 India's population will suffer approximately 60% of the world's heart disease. Today, an international team of 25 scientists ...

Study on origin of mutation that causes fatal familiar insomnia

This release is available in Spanish . A PhD thesis at the University of the Basque Country (UPV/EHU) has studied the origin of the mutation that causes Fatal Familiar Insomnia (FFI). In the Autonomous Community of the Basque Country there is a high rate of carriers of this mutation 50%...

Genetic mutation causes familial susceptibility for degenerative brain disease

CINCINNATI Mutation of a gene that helps proteins migrate in and out of the cell's genetic command center the nucleus puts some families at higher risk for the degenerative brain disease acute necrotizing encephalopathy (ANE). This is the conclusion of a global study to be published Jan. 9 b...

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

Using a novel combination of cutting-edge technologies to scan the human genome, researchers at Children's Hospital of Pittsburgh of UPMC have identified a genetic mutation that identifies transplant recipients who experience rejection. Known as a single nucleotide polymorphism (SNP), the genet...

Researchers link early stem cell mutation to autism

La Jolla, Calif., June 30, 2008--In a breakthrough scientific study published today in the Proceedings of the National Academy of Sciences , scientists at the Burnham Institute for Medical Research have shown that neural stem cell development may be linked to Autism. The study demonstrated that m...

Genetic mutation associated with increased risk of lung cancer

Carriers of a common genetic disorder previously linked to lung disease may have a 70-percent to 100-percent increased risk of lung cancer, according to a report in the May 26 issue of Archives of Internal Medicine, one of the JAMA/Archives journals. The disorder, alpha1-antitrypsin deficiency ...

Inherited cancer mutation is widespread in America

COLUMBUS, Ohio A gene mutation responsible for the most common form of inherited colon cancer is older and more common than formerly believed, according to a recent study. The findings provide a better understanding of the spread and prevalence of the American Founder Mutation, a common cause in...

Varying prevalence among ethnic groups of gene mutation that increases risk of breast cancer

CHICAGO Among several U.S. racial/ethnic groups examined, Hispanic women were found to have the highest prevalence of the cancer-associated gene mutation BRCA1 at 3.5 percent, with Asian Americans having the lowest prevalence (0.5 percent), according to a study in the December 26 issue of JAMA. ...

Presence of gene mutation helps guide thyroid cancer treatment

A specific gene mutation may be useful in predicting the level of aggression of thyroid cancer and help guide treatment options and follow-up care, according to new study findings. The mutation, called BRAF V600E, is a genetic alteration in the BRAF oncogene, a modified gene believed to cause ...

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

MANHATTAN, KAN. -- New findings about the causes of mad cow disease show that sometimes it may be genetic. "We now know it's also in the genes of cattle," said Juergen A. Richt, Regents Distinguished Professor of Diagnostic Medicine and Pathobiology at Kansas State University's College of Veter...

Men unaware of their cancer risk when female relatives test positive for BRCA mutation

Men whose mothers, sisters or daughters test positive for a cancer-causing gene mutation also have an increased risk of developing the disease but are unaware of that risk. That is the conclusion of a study at Fox Chase Cancer Center exploring how families communicate genetic test results. Like...

Researchers discover inherited mutation for leukemia

Researchers have discovered the first inherited gene mutation that increases a person's risk for chronic lymphocytic leukemia (CLL), one of the most common forms of the disease. The study shows that the inherited mutation greatly reduces the gene's protective activity. Furthermore, a second kin...

Gene mutation linked to cognition is found only in humans

The human and chimpanzee genomes vary by just 1.2 percent, yet there is a considerable difference in the mental and linguistic capabilities between the two species. A new study showed that a certain form of neuropsin, a protein that plays a role in learning and memory, is expressed only in the cent...

Researchers find gene mutation that causes infertility in male mice

Up to 15 percent of couples of childbearing age struggle with the heartache of infertility. Now there is the promise of new hope with Cornell researchers' identification of a mutation in a gene that causes male infertility in mice. Because this is the first time that a dominant mutation that leads ...

Scientists uncover new target in cancer mutation puzzle

University of Rochester scientists, while investigating the two most frequent types of mutations in cancer, discovered a possible new route to treatment that would take advantage of the mutations instead of trying to repair them. The research is reported online this week in the journal Nature Struc...

Severe mental retardation gene mutation identified

Researchers have identified a novel gene mutation that causes X-linked mental retardation for which there was no previously known molecular diagnosis, according to an article to be published electronically on Tuesday, March 20, 2007 in The American Journal of Human Genetics. Investigators F. Luc...

Study uncovers mutation responsible for Noonan Syndrome

Scientists have discovered that mutations in a gene known as SOS1 account for many cases of Noonan syndrome (NS), a common childhood genetic disorder which occurs in one in 1,000-2,500 live births. NS is characterized by short stature, facial abnormalities, and learning disabilities, as well as he...

Fruit fly study identifies gene mutation that regulates sensitivity to alcohol

Researchers at the University of California, San Francisco (UCSF) have discovered a gene mutation in fruit flies that alters sensitivity to alcohol. The findings, reported in the October 6 issue of the journal Cell, may have implications for human studies seeking to understand innate differences in...

High-throughput oncogene mutation detection in human cancers by mass spectrometry-based genotyping

Researchers have devised a new method to detect a spectrum of known gene mutations in a variety of cancer genes that they say is both sensitive and cost-effective. They say that if validated, this method of genotyping might ultimately be used in "real time" to match patients to available targeted t...

Parkinson's mutation stunts neurons

Mutations in a key brain protein known to underlie a form of Parkinson's disease (PD) wreaks its damage by stunting the normal growth and branching of neurons, researchers have found. They have pinpointed the malfunction of the protein made by mutant forms of the gene called LRRK2 and how it affect...

Jefferson scientists identify gene mutation potentially involved in breast cancer initiation

Researchers at Jefferson Medical College and the Kimmel Cancer Center at Thomas Jefferson University in Philadelphia and at the Albert Einstein College of Medicine in New York have found evidence suggesting that a mutation in a gene that normally helps block the formation of breast tumors could pla...

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

The authors describe the discovery of a novel class of mutations that disrupt the function of a gene and thereby cause a specific phenotype. The mutation created the appearance of an "illegitimate" microRNA (miRNA) recognition site in a gene that did not have it in its normal form. In this study, ...

UT Southwestern researchers find gene mutation that leads to 'broken hearts'

Researchers at UT Southwestern Medical Center have identified a group of fruit fly gene mutations responsible for "broken hearts" in the embryonic stages of development, a discovery that could help identify genes that cause human heart defects. "We engineered a fruit fly so that the heart would ...

Genetic mutation linked to West Nile virus infection

A genetic mutation that protects against HIV increases the risk of developing clinical West Nile Virus infection, according to a new study appearing online on January 9th in The Journal of Experimental Medicine. The mutation in question is a small deletion in a gene that encodes a protein called ...

Gene therapy 'turns off' mutation linked to Parkinson's disease

A group of Northwestern University researchers is developing a novel gene therapy aimed at selectively turning off one of the genes involved in the development of Parkinson's disease. The gene therapy, described in the January online issue of the journal Experimental Neurology, was designed by Ma...

Gene therapy reverses genetic mutation responsible for heart failure in muscular dystrophy

University of Pittsburgh investigators have for the first time used gene therapy to successfully treat heart failure and other degenerative muscle problems in an animal model that is genetically susceptible to a human muscular dystrophy. Reporting in the Oct. 25 edition of the journal Circulation, ...

Newly recognized gene mutation may reduce seeds, resurrect plants

A mutated plant that seems to return from the dead may hold the secret to how some flora protect their progeny during yield-limiting drought and other stresses, according to Purdue University scientists whose study of the plant led to discovery of a gene. The gene, called RESURRECTION1 (RST1), ha...

Sugar beet virus mutation requires Texas touch

The only sugar beets growing in Texas are in the laboratory. But those few plants are getting to the root of problems throughout the sugar beet industry. The sugar beet industry moved out of Texas in 1997 after the close of the processing plant at Hereford. But the growing research program withi...

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

After decades of laboratory work studying how animals evolve, researchers sometimes need to put on the hip waders, pull out the fishing net and go learn how their theory compares to the real world. According to a Stanford University School of Medicine study published in the March 25 issue of Scienc...

Sun exposure early in life linked to specific skin cancer gene mutation

Skin cancers often contain different gene mutations, but just how these mutations contribute to the cause of melanomas has been a mystery. A new clue comes from scientists at the University of North Carolina at Chapel Hill Schools of Medicine and Public Health. Their research indicates that earl...

Carnegie donates landmark clones to biology

...ated on the early Earth. This mechanism has been retained although a single mutation can make the transporters work independently. So why did this simpler mutation not succeed? The researchers believe that there must still be selective pre...

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

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

Abnormal brain circuits may prevent movement disorder

... MANHASSET, NY -- Most people who carry a genetic mutation for a movement disorder called dystonia will never...hat has puzzled scientists since the first genetic mutation was identified in the 1990's. Now, scientists at T...te for Medical Research have figured out why these mutation carriers are protected from symptoms of the disord...

Understanding how weeds are resistant to herbicides

...er it is resistant or not because we know the gene sequence and we know the mutation and the mechanism." Having the complete genomic data on waterhemp will h...u're exerting selection pressure -- you're selecting for that rare plant or mutation that will survive. When you do that, and you kill all of the siblings that ...

Beautiful plumage: Feather color and sex start the species revolution

...has highlighted research providing evidence for the evolution of a new species. Birds use plumage colour to recognize and select potential mates. A mutation of a single DNA base can lead to a striking colour change, as demonstrated by two closely related flycatcher populations in the Solomon Islands. Accor...

Stem cell 'daughters' lead to breast cancer

...ammy effect faulty growth control, faulty DNA repair and expanded luminal progenitor cell numbers ultimately resulting in breast cancer in some BRCA1 mutation carriers." Dr Visvader said in the long-term, breast biopsies might be able to reveal misbehaving luminal progenitor cells. What's more, certain 'ma...

Study links virus to some cases of common skin cancer

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