mutation 1 4

Tag: "mutation" at medical news

Autism a Complicated Genetic Problem

... in a family who has the disorder carries the same mutation or pattern of mutations. But that's not the case here. The researchers found numerous spontaneous mutations in 14 of 195 people with autism-related disorders. And of the 14 autism patients with mutations, only two had relatives with autism.Scient...

Stem Cells Hold Promise for Treating Neurodegenerative Diseases

... with a genetic component. The mouse used here has mutation in a gene that makes the housekeeping enzyme hexos...rapeutic impact. Sandhoff results from a genetic mutation that reduces the body's supply of an enzyme, called hexosaminidase ("hex"), used by brain cells to m...

Researchers Discover New Molecular Path to Fight Autoimmune Diseases

...In humans, one cause of this malfunction is when a mutation in the FOXP3 gene disables the immune cells’ ability to function. In a new study published online this week in the Proceedings of the National Academy of Sciences, researchers at the University of Pennsylvania School of Medicine have discovered how t...

UCI Scientists Reconstruct Migration of Avian Flu Virus

...tists believe. "The ability to develop the right mutation allows the virus to hop from one host type to the next," said Robert Wallace, UCI postdoctoral researcher and lead author of the study. "By spreading across a large area, the virus in essence can run multiple experiments in multiple locations, increa...

Triptolide: A Potential Drug for Polycystic Kidney Disease

...g a signal to stop cell growth. PKD is caused by a mutation in the PKD1 or PKD2 gene causing the cells to miss the “stop growing” signal, allowing them to keep growing, and thus generating a cyst. In collaboration with Stefan Somlo, M.D., Chief of Nephrology at Yale School of Medicine, who discovered the PK...

Rare Mutation Causes Early Heart Disease and Metabolic Syndrome

...plicated in heart disease. Even though the genetic mutation is very rare, these findings point to new approach...chromosome 12. In this region, they found a single mutation in a gene called LRP6, which acts in the Wnt signaling pathway and which was previously known to be ...

Widely Used Hepatitis B Drug Spurs HIV Drug Resistance

...six months of entecavir therapy, a so-called M184V mutation of HIV develops. Thio says viruses with this mutation are known to be resistant to lamivudine, better known as 3TC, a medication that prevents HIV replica...

Fruit Flies May Pave Way to New Treatments for Age-related Heart Disease

...oxygen supply. Hearts in young flies with the KCNQ mutation exhibited prolonged heart contractions and irregular beats seen usually in older flies (and older people). To enable their study of the fly heart, the researchers created new methods to dissect the hearts, and quantify heart contractility and other f...

Irregular Heartbeat Linked to Genetic Mutation

...s explored and confirmed the presence of a genetic mutation that clearly established an inherited predispositi...ompared to 2,000 individuals who did not carry the mutation or suffer from atrial fibrillation. The Mayo Clinic study is the first to identify an atrial fibri...

Computer Tool Helps Pinpoint Risky Gene Mutations

...o help answer a critical question: Is a particular mutation a harmless variation or a genetic glitch that coul...the sequence found in the general population. This mutation caused an amino acid residue change in the protein produced by the gene. “Some of these types of var...

Mutation In PALB2 Elevates Risk of Cancer

...rs. Recent research shows that the constitutional mutation in PALB2 gene elevates the risk of breast cancer f...sh breast cancer families. The same constitutional mutation in PALB2 was observed in three families. It was later showed that the relevant mutant protein is def...

South Asians in US More Prone to Heart Disease

...oric Framingham Heart Study, is likely caused by a mutation of Apo-A1, the gene responsible for coding the maj...igrants, looking for a connection between the gene mutation and dysfunctional HDL. Blood samples were sent to UCLA to determine whether each subject had dysfu...

UCLA Find Yields Further Insight into Causes of Parkinson’s Diseas

...dominant fashion, so they put only one copy of the mutation into their fly model. The result was the death of the neurons that use dopamine, the neurotransmitter long implicated in Parkinson's disease. "We put the mutant parkin in all different kinds of tissues and in different kinds of neurons, and it was...

Gene Behind Lincoln’s Diseas

... don't burst, and that people with a beta spectrin mutation suffer a form of anemia. The Utah biologists showed in nematode worms, frequently used as genetic stand-ins for humans, that loss of beta spectrin leaves neurons (nerve cells) prone to breakage. They found the microscopic protein acts like a tiny S...

Alcohol Dehydrogenase Gene may Protect from Developing Alcoholism

...holism. "Approximately 40 percent of Asians have a mutation in ALDH that may cause them to have an aversive reaction when they drink so they are much less likely to develop alcohol dependence." And recently, she said, researchers have discovered that individuals of African ancestry have a form of ADH that is ...

New Antibody for EGFR Causes Lung Cancer Regression

...ess the same mutant EGFR, for example, some have a mutation that affects the intracellular part of EGFR and some have a mutation that affects the extracellular part of EGFR (known as the EGFRvIII mutant). The potential of ther...

Reactivated Genes Cause Tumors to Shrink (or) Disappear

...programmed cell death. When p53 is turned off by mutation or deletion, cells are much more likely to become cancerous, because they will divide uncontrollably even when DNA is damaged. In this study, the researchers used engineered mice that had the gene for p53 turned off. But, they also included a genet...

Kenya: Alert As Virus Leaps Over Buffer Zone

...es are made to mitigate human and animal loses, or mutation of the virus - changing genetically and becoming even more virulent. Climate factors could also make it alter its visiting and parasitic habits. In September, a UN Food and Agricultural Organisation publication quoted the US National Aeronautics an...

Genetic-Key to Stop Heroin Addicts

...tested, it was found that 25% of the people with a mutation of the gene can cope on lower doses of methadone. But the majority without the mutation process faster methadone, need almost double the amount to stave off heroin withdrawal. It was als...

Early Risers are Born That Way, Not Made

...ered the modus operandi of Per2 (Period2) the gene mutation responsible for this phenomenon. This genetic alt... in the journal Cell, have identified how the gene mutation causes this condition. According to them, replacement of one amino acid from among hundreds found i...

1 2 3 4 5 6 7 8 9 10