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Tag: "mutation" at biology news

No small feat: First ever gene therapy success for muscular dystrophy achieved

...d also one of the most severe, is due to a genetic mutation of laminin alpha-2, a protein that is essential for maintaining the structures that surround muscle cells and is an integral link in the chain of proteins that regulate the cell's normal contraction and relaxation. If the protein is defective, or is ...

Two designer drugs hit same lung cancer target, but only one is effective

...cated within the cell. In NSCLC, patients with the mutation often respond to both drugs, though only Tarceva h...ntists something new about the biology of the EGFR mutation in NSCLC. "The lesson is, to inhibit the mutant receptor, you need to inhibit the domain of the EGFR...

Can two killers make a cure?

...with cystic fibrosis. The condition is caused by a mutation in the CFTR gene, and one of the problems in developing a treatment is getting a working version of CFTR into a high enough proportion of cells to restore normal lung function. While HIV is good at adding genes to cells' genomes, it does not target ...

Treatments have same target, different responses for lung cancer patients with genetic mutation

The gene mutation that identifies the lung cancer patients most likely to respond to the drug gefitinib (Iressa) is not associated with a response to the drug cetuximab (Erbitux), according to a new study published in the August 17 issue of the Journal of the Nationa...

MicroRNA tweaks protein that controls early heart development

...gene miR-1 to determine what health effects such a mutation might cause. They also are studying mice and fruit flies lacking miR-1. Dr. Srivastava said the field of microRNA studies has only recently begun to blossom. One of the key challenges is to determine which messenger RNA any given microRNA will targe...

Chemical 'band-aid' prevents heart failure in mice with muscular dystrophy

...and prevent heart failure in mice with the genetic mutation that causes Duchenne muscular dystrophy, according...at the University of Michigan Medical School. The mutation in the dystrophin gene causes the progressive deterioration of skeletal muscles seen in people with ...

Reversal of role for a viral protein associated with the development of lymphoma

...nstitutes a gene and for studying gene expression, mutation and evolution, according to Lopez. For example, recursive splicing must now be taken into account when evaluating mutations that disrupt gene expression and produce a dysfunctional or non-functional protein. "Current data indicate that at least 1...

Carnegie Mellon University research reveals how cells process large genes

...nstitutes a gene and for studying gene expression, mutation and evolution, according to Lopez. For example, recursive splicing must now be taken into account when evaluating mutations that disrupt gene expression and produce a dysfunctional or non-functional protein. "Current data indicate that at least 1...

Gene therapy advance treats hemophilia in mouse models

...00 males. People with the condition have a genetic mutation that leaves them with little to no factor VIII protein to prevent uncontrolled bleeding. Individuals with the severe form of the disease have less than 1 percent of the normal amount of protein. However, only a relatively small amount of the normal p...

Scientists focus on 'dwarf eye'

...discovered what appears to be the first human gene mutation that causes extreme farsightedness. The researche...ng farsightedness. In the case of nanophthalmos, a mutation in MFRP completely wipes out the function of the protein coded for by the gene. In people with this...

Most common lung cancers may begin in newly discovered cells

...tal therapies. The mouse carries a silent genetic mutation of an oncogene known as K-ras, which is found in a...eople. A specially designed virus can activate the mutation in only a few cells. The mouse is known as a conditional mutant strain. In this case, the mouse inha...

New Discovery May Help Doctors Treat Infertility

...ovide enough information to determine if a genetic mutation may be altering the function of the estrogen receptor beta. The results of this blood test, coupled with information from other medical tests and evaluations conducted by the physician, will help diagnose infertility and better determine treatment op...

Researchers track down cause of a disfiguring bone disorder

...ute in Walnut Creek, Calif., characterized a human mutation associated with the malfunctioning of the sclerost... one of the first to pinpoint a disease-associated mutation that alters one of these long-range regulatory elements. "Our study addresses a fundamental issue w...

Climate model links higher temperatures to prehistoric extinction

... reported in vivo using a mouse model. Mice with a mutation that causes them to overproduce IFNγ were use...rthermore, a separate strain of mice with the same mutation as the first strain, but that had also been engineered to prevent IFNγ production, were found t...

VCU study shows hormone-like molecule kills cells that cause inflammation in allergic disease

... reported in vivo using a mouse model. Mice with a mutation that causes them to overproduce IFNγ were use...rthermore, a separate strain of mice with the same mutation as the first strain, but that had also been engineered to prevent IFNγ production, were found t...

Pinpointing the cause of a neurodegenerative disorder

...s arise because of a "genetic stutter," in which a mutation causes a particular gene sequence to repeat itself. These abnormal genetic repeats cause the resulting proteins to contain unusually long repetitive stretches of the amino acid glutamine. The new findings, which are published in the August 26, 2005,...

Major advance made on DNA structure

...rticular, such issues as genetic "expression," DNA mutation and repair, and why some DNA structures are inherently prone to damage and mutation. Understanding DNA structure, the scientists say, is just as necessary as knowing gene sequence. The human genome project, with its detailed explanation of the geneti...

New insights into how Huntington's disease attacks the brain

...thin 10 to 25 years. Every carrier of the HD gene mutation will develop the disease. Each child of a parent with Huntington's disease possesses a 50 percent risk of inheriting the illness. In the United States, the disease strikes 30,000 people and places another 150,000 persons at risk. The disorder affects...

Newly discovered genetic disease sheds light on body's water balance

...n the process, they have discovered a rare type of mutation where different substitutions in a single amino ac...ance. They found that each infant has a different mutation in a specific gene, AVPR2, that encodes the V2 receptor (V2R) for vasopressin, a hormone that instru...

Any exposure to tobacco smoke during pregnancy is risky

...ure result in similarly increased rates of genetic mutation that are basically indistinguishable. "This analy...radictory results. The original studies looked at mutation rates at the HPRT gene located on the X chromosome in cord blood samples from newborns. Dr. Grant's ...

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