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Tag: "mutation" at medical news

Mutated Gene and Bad Habits can Lead to Age-related Macular Degeneration

...// US, have reported that the presence of a gene mutation as well as risk factors like smoking and obesit...ping age-related macular degeneration. The gene mutation :complement factor H (CFH Y402H) mentioned in the Archives of Ophthalmology, has been studied and sh...

New Test for Treatment of AIDS

...he strain of HIV affecting them has developed some mutation or genetic change that prevents them from being subdued with anti-AIDS drugs. Such strains multiply rapidly and make the carrier more prone to develop AIDS, and harder to treat. Currently the tests that are used to detect drug resistant strains o...

Sugars in Liver Found to Clear Fats from the Bloodstream

... The UCSD researchers created a mouse model with a mutation of heparan sulfate, which resulted in elevated tri... lab, the researchers combined the heparan sulfate mutation with a mutation in the LDL receptor, which has long known to be responsible for clearing cholesterol...

Culprit Gene Behind Childhood Kidney Cancer Discovered

...onnected to the disease. During the process, the mutation in WTX gene was identified, though the knowledge about the key purpose of the protein encoded by WTX still remains a mystery. Yet the position of the gene on the X chromosome has raised the curiosity of the researchers. This discovery indicates that...

Risk Of Soft Tissue Sarcomas In Hereditary Retinoblastoma Survivors

... of soft tissue sarcomas is attributed both to the mutation in the RB-1 gene that causes retinoblastoma and to the radiation treatment that most retinoblastoma patients received when treated decades ago. Radiation is used less frequently today because of the risk of second cancers. The researchers at the Na...

For Travelers: A Review of the Avian Flu

...to-human transmission has not been documented. The mutation of the virus that would make that possible could be devastating on a world scale. At this time, however, the risk factors for contracting the virus are limited to contact with infected birds. Those factors include contact from slaughtering, defeather...

Researchers Identify New Drug Targets for Cancer

...h is a gene that acts to prevent cell growth. If a mutation occurs in this gene, it makes the individual – or ...e development of cancer in the tissue in which the mutation occurs. “When we created mice missing a tumor suppressor gene that also had a high rate of aneupl...

Researchers Discovered the Gene Responsible for Brittle Bone Disease

...from 10 to 15 percent of OI patients do not have a mutation in one of the collagen genes known to cause the di...arini added that, on the basis of her samples, the mutation did not appear to be confined to a particular ethnic group. OI is an uncommon disorder which occu...

Profiling of Cancer Genes May Lead to Earlier Detection Human Cancers

...ften lost in tumor cells. This can occur through a mutation in the gene’s DNA sequence or through deletion of the gene. Loss of tumor suppression function also can occur in a process called methylation, where a chemical called a methyl group is attached to a DNA region near the gene and prevents it from being...

Run Amok Enzyme Causes Same Problems in Both Humans and Fruit Flies

... Biology. In Drosophila, Doe’s team found that a mutation in aurora-A, an evolutionary conserved gene in fruit flies and humans, results in two distinguishing problems: Proteins (Numb) involved in the differentiation into neurons and neuroblast self-renewal (aPKC) are not sorted to their proper sides of the...

Clues to Allay Aging

...pneumonia at the age of 16. The boy had a peculiar mutation in a particular gene that plays a key role in the ...ally engineered to study the rapid aging seen when mutation of XPF gene happens in the body. The mutant mice showed physically retardation to some extent after ...

Embryonic Selection of Sex can Avoid Conceiving Blind Children

...selection, it would be essential to know the exact mutation in the chromosome, something that has not been achieved in this particular case. This embryonic selection enables the prevention of the transmission of this disease to future generations and may be a way to reduce the number of victims of Retinosi...

Surprising Interaction Between Genes, Gender, and Hypertension

...nd Huntington’s disease, where a single variant or mutation has a dramatic effect. In contrast to these single-gene-specific diseases, the UCSD researchers observed more subtle variants on six different genes, indicating that multiple genes can contribute to high blood pressure. “We discovered that there’s...

Certain Gene Mutations Numbs Pain

...entified// who suffer no physical pain because of mutation of a particular gene. Members of the family affect...r better cures.Dr Wood also explained that another mutation of the same gene was earlier identified to cause hyper sensitivity to pain in some hereditary disord...

Team Discovers a Gene That Causes Familial Pancreatic Cancer

... cell to move. In the case of pancreatic cancer, a mutation in Palladin allows the cell to move much more quic...ne of the members of Family X who had the Palladin mutation got pancreatic cancer or pre-cancer, while the members of Family X who did not have the mutation wer...

Gene Discovered by Researchers Tied to Pancreatic Cancer

...th sporadic, or non-familial, pancreatic cancer. A mutation of the gene was overexpressed in cells of people w...rly stage disease but not in those unaffected. The mutation was associated with gene overexpression 21 times greater than other genes in that region. Moreover, ...

From a Lowly Yeast, Researchers Divine a Clue to Human Disease

...8 issue of the journal Molecular Cell, shows how a mutation in a single gene can have widespread effects on regulation of the genetic program in a cell, causing some genes to be read more than normal and others less than normal. While nearly every cell in an organism contains a complete set of DNA, each ind...

First International Gene Screen for Typical ALS Is on Track

...the cause of some inherited forms of ALS-namely, a mutation producing a flawed version of the enzyme superoxide dismutase (SOD1)-a handful of other ALS-related mutations have been brought to light. The genetic underpinnings of sporadic ALS, however, are far less certain. Sporadic ALS, affecting 90 percent ...

Zinc – A New Key Player In Brain Circuitr

...says the research. By engineering a mouse with a mutation affecting a neuronal zinc target, researchers have...ising the neurons' ability to respond to zinc. The mutation in the receptor, called the glycine receptor, targets the same receptor known to be mutated in human...

Scinetists Alert to Onset of Pandemic through Bird flu Mutations to Humans

...d with bird flu, thereby making it easier to map a mutation trajectory that will help predict when the avian virus will cross the threshold to become a human pathogen. NLA...

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