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Tag: "mutation" at medical news

First Gene Linked to Scoliosis Identified

.... The researchers speculate that this particular mutation alters the binding of a molecule that controls whether the gene is turned on. They think the gene is turned off more often than it should be, which reduces the amount of CHD7 protein produced. "The change in the amount of the protein produced is su...

Loss of Antenna Leads to Cancer in Insects

... mutated in PKD has also been found as a target of mutation in colorectal cancer....

X-ray Mammography Aids in Breast Cancer Detection

...sociated with genetic risk factors are linked to a mutation of the BRCA1 or BRCA2 genes. Women with multiple relatives who developed breast or ovarian cancer at a young age, and those who are found to carry BRCA mutations face a decision about whether to have prophylactic surgery or undergo a lifetime of i...

The DNA That Spells Double Risk of Heart Attack

...y stage in life. Those portraying one copy of the mutation carry a 50 per cent chance of suffering an "early onset" heart attack compared to those portraying normal" DNA. The scientists are planning to design a test which would enable doctors to spot people in the risk category and also those who are genet...

Cancer Cells Reprogram Energy Needs To Grow And Spread

...tudy shows for the first time how a cancer-causing mutation can block their production. There must be a stro...pel-Lindau (VHL) syndrome, caused by a single gene mutation and characterized by the tendency to develop tumors in many parts of the body, including the kidney,...

Gene Variant Responsible for Acquiring Intellect and Memory in Humans Identified

...r study shows that the gene arose through a single mutation in the DNA, when a thymine nucleotide was exchanged for an adenine, causing 45 additional amino acids to be loaded into the protein that the gene expresses. Boffins say that the changes make humans' neuropsin II significantly different from the neu...

Effects on Breast Tumors of DNA Alternations in 3 Genes Described

...ristics of breast tumors. "It is well known that mutation in genes - alterations in their sequence - is one of the characteristics of tumors responsible for some of their disease properties," said Menghua Tao, Ph.D., research assistant professor of social and preventive medicine in the UB School of Public H...

Researchers Have Identified Cancer Promoter Genes

...istics of breast tumors. "It is well known that mutation in genes -- alterations in their sequence -- is one of the characteristics of tumors responsible for some of their disease properties. In addition, it is now becoming clear that other changes in the DNA may also contribute to the development of cance...

Genetic Marker Linked to Aggressive Prostate Cancer

...the country. This is the first time that a genetic mutation associated with prostate cancer has been found in a large segment of the population. The initial study by deCODE genetics showed that men who carry the genetic marker have a 60 percent increase in risk of the disease. Genetic markers, also called...

Understanding Why C. Difficile Causes Disease -- It's Hungry

... protein called C that prevents R from acting. A mutation in the C protein gene, leaving R unchecked, is the cause of the hypervirulent strain. Sonenshein and his colleagues are currently working to identify a protein that might shut down the gene that codes for R. By identifying such a protein, Sonenshein ...

Researchers Identify the Gene Mutation That Raises Breast Cancer Risk

...hom had breast cancer , has revealed a common gene mutation that holds 60 per cent increased risk of breast ca...K based University of Cambridge says that the gene mutation was observed in one out of six women during the study. The researchers say that the newly identifi...

Gene Mutation That Increases the Risk of Chronic Lymphocytic Leukaemia Found

...ve Cancer Center have discovered an inherited gene mutation that makes a person more vulnerable to chronic ly...aemia (CLL). The study shows that the inherited mutation greatly reduces the gene's protective activity. Furthermore, a second kind of change occurs later th...

Genetic Testing Helping Cancer Survivors Fight For Their Loved Ones

...whether or not a person has a disease-related gene mutation that may increase the risk of certain cancers. Pat...ased on the results of the test, those with a gene mutation -- and a higher risk of cancer -- discuss options for next steps. 3. Know the benefits and risks a...

Mouse Model Points to Strategy for Treating Rare Muscle Disease & Kidney Disorders

...re muscles progressively weaken. It is caused by a mutation in the GNE gene, which codes for two enzymes that ...ian-Jewish families, which is caused by a specific mutation in the GNE gene known as M712T. Numerous other GNE mutations can cause HIBM and occur in populations...

Researchers Identify Genetic Mutations for Hereditary Diffuse Gastric Cancer

...wo additional families carrying the novel 2398delC mutation shared a common haplotype (a group of alleles of d...r families, the cumulative risk by age 75 years in mutation carriers for clinically detected gastric cancer was 40 percent for males and 63 percent for females ...

New Findings in Fragile X Mental Retardation Protein

...d form of mental retardation is mainly caused by a mutation in the FMR1 gene on the X chromosome, leading to the loss of FMRP, which is abundantly expressed in the brain and testes. Without this protein, brain development is hampered and nerve cells cannot communicate with each other appropriately, resulting ...

A New Clue for Skin Cancer.

...to link early life sunlight exposure to a specific mutation in melanomas. Researchers interviewed 214 melano...f sun exposure before age 20. People with the NRAS mutation were more likely to have had high exposure between the ages of 50 and 60. About 15 percent of melano...

Exposure to Sun from Early Life can Increase the Risk of Skin Cancer

...to link early life sunlight exposure to a specific mutation in melanomas. Researchers interviewed 214 melano...f sun exposure before age 20. People with the NRAS mutation were more likely to have had high exposure between the ages of 50 and 60. About 15 percent of melano...

New Gene Discovery Raises Hope for Childhood Blindness Cure

...tani community. "If a parent is found to carry a mutation in the LCA5 gene, the risk of blindness in their c...very important for everybody to know exactly which mutation they've got, because the treatments being tested are specific for different kinds of retinal degener...

Tritium Risks at New Heights

...uch emissions could put people at risk for genetic mutation and cancer. Canadian-style Candu reactors are among the world's largest sources of tritium, producing up to hundreds of times more of the radioactive substance than other reactor designs. The report says high amounts of tritium in the Great Lakes a...

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