Mutation in Medical News

Gene Mutation Could Be Key to Rare Blood Vessel Disease

Finding may lead to new treatments, researcher says WEDNESDAY, July 22 (HealthDay News) -- Mutations in a protein called thrombomodulin, which is involved in blood clotting and preventing cell damage, may be the cause of some atypical HUS, a new Canadian study suggests. The finding ...

Gene Mutation Is Linked to Heart Muscle Disease

Findings shed light on understanding of dilated cardiomyopathy WEDNESDAY, July 15 (HealthDay News) -- Gene mutations that cause heart muscle disease and chronic heart failure in some children and adults with dilated cardiomyopathy have been identified by researchers. Dilated cardiom...

Cancer Researchers Link DICER1 Gene Mutation to Rare Childhood Cancer

Finding may have implications for gene's role in other cancers Washington, DC (Vocus) June 25, 2009 -- Research published today in Science Express from the journal Science demonstrates the first definitive link between mutations in the gene DICER1and cancer. By studying...

Clarient Launches New Gene Mutation Test to Help Select Therapy for Non-Small Cell Lung Cancer

Epidermal Growth Factor Receptor Mutation Test May Be Key To Identifying Patient Response to Drug Therapies ALISO VIEJO, Calif., June 16 /PRNewswire-FirstCall/ -- Clarient, Inc. (Nasdaq: CLRT ), a premier anatomic pathology and molecular testing services resource for pathologists, oncologis...

USC researchers identify DNA mutation that occurs at beginning point of T-cell lymphoma

Researchers at the Keck School of Medicine of the University of Southern California (USC) have identified a key mechanism that causes chromosomes within blood cells to breakan occurrence that marks the first step in the development of human lymphoma. The study provides researchers with the clea...

Gene Mutation May Up Risks of Endometrial Cancer

Marker indicates aggressiveness of the disease, study finds,, ,, WEDNESDAY, May 27 (HealthDay News) -- A genetic marker for aggressive endometrial cancer has been identified by U.S. researchers, who said their finding could lead to more targeted and risk-appropriate treatments. The ...

Gene Mutation Doubles Risk of Aggressive Colon Cancer in Blacks

Study found whites much less likely to have this variant WEDNESDAY, April 1 (HealthDay News) -- A genetic mutation may explain why blacks are more likely than whites to have a more aggressive form of colorectal cancer, U.S. researchers report. "Several studies have identified a disp...

Increase in P53 mutation linked to advanced colorectal cancer in blacks

PHILADELPHIA Researchers have identified a possible genetic cause for increased risk for a more advanced form of colorectal cancer in blacks that leads to shorter survival, according to data published in Clinical Cancer Research , a journal of the American Association for Cancer Research. Un...

Gene Mutation Linked to Inherited ALS

Discovery might one day lead to additional treatments, experts say THURSDAY, Feb. 26 (HealthDay News) -- A new gene has been identified as playing a role in the inherited form of amyotrophic lateral sclerosis, or ALS, say researchers at the University of Massachusetts Medical School a...

Gene Mutation Increases Drug Toxicity, Rejection Risk in Pediatric Kidney Transplants

Study Suggests Genetic Approach to Personalized Screening of Anti-Rejection Drug Dosing CINCINNATI, Feb. 18 /PRNewswire-USNewswire/ -- 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 sid...

Gene Mutation Tied to Majority of Cases of Mental Retardation

Finding might lead to better diagnosis and drug treatments, study says WEDNESDAY, Feb. 4 (HealthDay News) -- Children who have the most common form of mental retardation -- called nonsyndromic mental retardation -- appear to have a genetic mutation that may contribute to the condition,...

Gene Mutation Tied to Inherited Fatal Lung Disease

Those with variant had cancer as well as idiopathic pulmonary fibrosis, study finds TUESDAY, Dec. 30 (HealthDay News) -- A mutation in a gene previously found to help protect the lungs against toxins may also be linked to lung cancer and some inherited cases of a lethal lung disease a...

UBC researchers discover gene mutation that causes eye cancer

A University of British Columbia geneticist has discovered a gene mutation that can cause the most common eye cancer - uveal melanoma. Catherine Van Raamsdonk, an assistant professor of medical genetics in the UBC Faculty of Medicine and a team of researchers, have discovered a genetic mutation...

Gene Mutation in Dalmatians Sheds Light on Kidney Stones in Humans

Finding explained high levels of uric acid in dog breed FRIDAY, Nov. 7 (HealthDay News) -- A gene mutation that causes the high levels of uric acid that lead to bladder stones in Dalmatians has been identified by U.S. researchers, who said the finding may provide clues about kidney sto...

Gene Mutation May Cause Some Cases of Seasonal Affective Disorder

Finding could help identify people who'd respond to light therapy, study says FRIDAY, Nov. 7 (HealthDay News) -- A mutated gene in the eye may account for some cases of seasonal affective disorder, that annual bout of "winter blues" experienced by an estimated 6 percent of the U.S. pop...

Gene Mutation Puts Some Kids at Risk for Tobacco Addiction

Having 2 copies of variant, puffing before age 17 boosted odds for being heavy smoker THURSDAY, July 17 (HealthDay News) -- People with certain common genetic variations that affect their nicotine receptors seem to be at higher risk for becoming life-long nicotine addicts if they begin...

Gene Mutation Tied to Inherited Atrial Fibrillation

Defective hormone may point to new targets for treatment, study says WEDNESDAY, July 9 (HealthDay News) -- A gene mutation linked to one family's hereditary form of atrial fibrillation may help researchers find better ways to predict, prevent and treat the heart rhythm problem, accordi...

New research on mutation in yeast can enhance understanding of human diseases

DURHAM, N.H. Yeast, a model organism heavily relied upon for studying basic biological processes as they relate to human health, mutates in a distinctly different pattern than other model organisms, a finding that brings researchers closer to understanding the role of evolutionary genetics in hum...

Gene mutation improves leukemia drug's effect

COLUMBUS, Ohio Gene mutations that make cells cancerous can sometimes also make them more sensitive to chemotherapy. A new study led by cancer researchers at Ohio State University shows that a mutation present in some cases of acute leukemia makes the disease more susceptible to high doses of a p...

Genetic mutation linked to walking on all 4s

Barcelona, Spain: What are the genes implicated in upright walking of humans? The discovery of four families in which some members only walk on all fours (quadrupedality) may help us understand how humans, unlike other primates, are able to walk for long periods on only two legs, a scientist wi...

Researchers Find Gene Mutation That Increases Asthma Risk

Study finds variant and protein it expresses may cause some cases of the disease WEDNESDAY, April 9 (HealthDay News) -- Just a small change in one gene, called CHI3L1, can increase a person's risk of developing asthma. The genetic variation in CHI3L1 causes the gene to release high ...

Rare Gene Mutation Plays Role in Longevity

Study found it restricts growth factor, leads to shorter stature but longer life TUESDAY, March 4 (HealthDay News) -- A rare gene mutation that restricts a particular growth factor may be one of the keys to living to 100 and beyond, a new study suggests. This mutation, which seems t...

Genetic mutation found in peripheral artery disease

The finding, appearing online in the journal Circulation, is the first to document a genetic mutation linked to PAD. Although the work was done in mice, researchers say it is likely to give them new insight into how PAD develops and progresses in humans. Dr. Brian Annex, professor of medicine ...

Single Mutation in Mitochondrial DNA Weakens Heart, Muscles

Changes in tissue similar to effects of aging, report suggests THURSDAY, Feb. 14 (HealthDay News) -- A single change in the DNA of mitochondria -- the cellular power plants that generate energy in all human cells -- has been found to cause degenerative heart and muscle disease in mice,...

BRCA1 mutation linked to breast cancer stem cells

ANN ARBOR, Mich. A new study may explain why women with a mutation in the BRCA1 gene face up to an 85 percent lifetime risk of breast cancer. Researchers from the University of Michigan Comprehensive Cancer Center found that BRCA1 plays a role in regulating breast stem cells, the small number...

Scripps research scientists find new genetic mutation that halts the development of lupus

The new study was published in the January 18 edition (Volume 28, Issue 1) of the journal Immunity. The lupus-suppressing action is the result of what is known as a nonsense mutation of the Coronin-1A gene (Coro1a) required for the development of the disease. A nonsense mutation causes the gene...

BRCA1 Mutation Prevalent Among Hispanic, Younger Black Women

New ethnic findings point out that all women with early breast cancer should be tested for the mutation, experts say WEDNESDAY, Dec. 26 (HealthDay News) -- The gene mutation BRCA1, which is known to increase the risk of breast cancer, is prevalent among Hispanics and young black women ...

Breast cancer gene mutation more common in Hispanic, young black women, Stanford/NCCC study finds

STANFORD, Calif. - A genetic mutation already known to be more common in Ashkenazi Jewish breast cancer patients is also prevalent in Hispanic and young African-American women with breast cancer, according to one of the largest, multiracial studies of the mutation to date. Researchers at the St...

Overlooked Mutation Can Spur HIV Drug Resistance

It should be added to standard genetic tests used to guide treatment, experts say SATURDAY, Dec. 1 (HealthDay News) -- One in 10 HIV-infected people receiving drug treatment harbors a hidden genetic mutation that renders certain strains of the virus more resistant to antiretroviral med...

Gene Mutation Key to Infertility in Male Mice

If same defect exists in men, it could lead to new treatments, study says,,,, WEDNESDAY, Oct. 17 (HealthDay News) -- A defect in a gene that's essential for the formation of functioning sperm cells may cause infertility by preventing the head of sperm from being able to penetrate an eg...

Research shows how genetic mutation causes epilepsy in infants

New research from the Howard Florey Institute in Melbourne has shown why mutation in a single gene can cause epilepsy in infants. Infants are more susceptible to seizures because their brains are developing at a rapid rate, making their brain cells excitable. Their neurons are growing and makin...

Gene Mutation Linked to Parkinson's Disease

While more research is needed, finding could prove significant MONDAY, Sept. 17 (HealthDay News) -- People who carry a certain gene mutation appear to have a greater risk for getting Parkinson's disease and for getting it at a relatively early age, new research suggests. The study a...

Researchers identify ALS gene mutation

CHICAGO --- Research that has discovered a new gene whose mutations cause 5 percent of inherited cases of ALS (amyotrophic lateral sclerosis) is part of a national study led by the Northwestern University Feinberg School of Medicine. The study reported in Science today (Feb. 27) points to a c...

60 Million Worldwide Carry Heart Disease Mutation

Muscle protein variant, most common in India, leaves carriers with little warning of dangers FRIDAY, Jan. 23 (HealthDay News) -- About 60 million people worldwide carry a gene mutation that almost always causes heart disease, but the mutation is most common among people in India, accor...

Scientists identify new congenital neutropenia syndrome and causative gene mutation

A team of scientists has discovered a new syndrome associated with severe congenital neutropenia (SCN), a rare disorder in which children lack sufficient infection-fighting white cells, and identified the genetic cause of the syndrome: mutations in the gene Glucose-6-phosphatase, catalytic subunit...

Inherited form of hearing loss stems from gene mutation

ANN ARBOR, Mich. Pat Phalin learned she had hearing loss at 30, when she volunteered to give hearing tests at her local school. The pupils heard sounds she could not hear. Her husband Larry, a genealogy enthusiast, saw a pattern in his wife's family history. Her mother, grandfather and great-...

Researchers Develop Stem Line With Sickle Cell Mutation

Technique could allow scientists to more quickly screen models for drugs to treat diseases THURSDAY, May 29 (HealthDay News) -- Using a faster and more efficient method of reprogramming adult stem cells to an embryonic stem cell-like state, Johns Hopkins researchers developed a human s...

Breast cancer risk amplified by additional genes in combo with BRCA mutation

PHILADELPHIA - Many women with a faulty breast cancer gene could be at greater risk of the disease due to extra risk-amplifying genes, according to research published this month in the American Journal of Human Genetics. Researchers at the University of Pennsylvania School of Medicine join an i...

OHSU Cancer Institute researcher discovers what fuels certain cancer mutation

ATLANTA An Oregon Health & Science University Cancer Institute researcher has discovered that a particular hormone is responsible for driving a cancer enzyme to cause an often deadly red blood cell cancer. Researchers working with the cancer mutation in the JAK2 enzyme have found that the enzy...

Genetic Mutation That Makes Common Cancers Resistant to Drugs Identified

Researchers from Eli Lilly and Company and the Phoenix-based Translational Genomics Research Institute (TGen) have identified the genetic mutation that may alter tumour cell proliferation, and make them resistant to certain types of therapies. The researchers say that they found a recurr...