Tag: "muscular" at biology news

Penn researchers discover pathway that eliminates genetic defects in red blood cells

...A that makes a protein that is too short. Duchenes muscular dystrophy and cystic fibrosis are examples of hereditary diseases that result from nonsense mutations. We describe a surveillance pathway that targets RNA that is only found in red blood cells, says senior author Stephen A. Liebhaber, MD, Professo...

Accident-prone? Scientists link brain function to knee injuries

...hallenge to explain how such a highly conditioned, muscular and coordinated athlete is injured, unless we consider that he was momentarily distracted the instant before his foot contacted the ground, resulting in an awkward landing, Swanik said. But McNabb is not alone. An estimated 200,000 anterior cruciat...

CU researchers discover evidence of very recent human adaptation

... surrounding cells (mutations of this gene lead to muscular dystrophy), receptors that relate to hearing, genes involved in nervous system function and development, immune system genes and heat shock genes. The gene scan method also detected selection in a gene involved in digestion of lactose, an enzyme foun...

Sea anemone genome provides new view of our multi-celled ancestors

...sic animal biochemistry, development and nerve and muscular function, according to the team's analysis. These functions were conferred by combining ancient genes that are found outside animals with about 1,500 new genes not seen before in earlier forms of life. "We can trace the evolutionary history of roug...

Faulty cell membrane repair causes heart disease

...xercise or by inherent muscle weakness caused by a muscular dystrophy defect. The results are published in the...ty muscle membrane repair -- causes three types of muscular dystrophy. The new study expands knowledge of dysferlin function, showing that dysferlin-mediated...

JCI Table of Contents -- July 2, 2007

...mbrane repair may be involved in heart failure and muscular dystrophy. Their results appear in the July 2 issu...-deficient mice. Lack of dystrophin is involved in muscular dystrophy. While the precise repair mechanism remains unclear, it is thought that dysferlin-carrying...

Europe struggles to meet the challenges posed by PGD patients travelling abroad

...nked disorders such as cystic fibrosis or Duchenne muscular dystrophy. Only unaffected embryos are transferred to the womans uterus, thus avoiding the possible need for a pregnancy termination when the defect is picked up at a later stage. The study [1] was launched by the European Commission after a works...

New genetic test developed at Emory advances detection and diagnosis of muscular dystrophy

...ew genetic test targeting the most common types of muscular dystrophy--those caused by mutations in the dystro... may not appear until middle age or later.Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy and primarily affects boys. It is cau...

A fly lamin gene is both like and unlike human genes

...lectively called laminopathies, including forms of muscular dystrophy and premature aging diseases. The fruit fly Drosophila melanogaster has 2 lamin genes that are expressed in A- and B-type patterns, and it has been assumed that similarly expressed lamins perform similar functions. Yet, Dushay and his co...

UC Irvine awarded $3.9 million to upgrade stem cell research facilities, training

...pinal cord injuries, diabetes, multiple sclerosis, muscular dystrophy, heart disease, retinal disease, and Alzheimers and Huntingtons diseases. With CIRM funding, UCI plans to create more laboratory research space and purchase new equipment designed to genetically modify and analyze stem cells, as well as e...

Nobel laureate James Watson receives personal genome in ceremony at Baylor College of Medicine

...e of genes for diseases such as cystic fibrosis or muscular dystrophy. Because these are recessive genes, a person must have two mutated copies to have the disease. Having one copy makes a person a carrier for the disease. They also looked for gene variants or alleles that can raise the risk of chronic dis...

Existence of muscle-building stem cells points to regenerative therapies for muscular disease

...le with various muscle-wasting diseases, including muscular dystrophies. Ultimately, such treatments might als... include a mix of cells already committed to their muscular fate and others that behave like more versatile stem cells. The cells had widely been considered by ...

UVa researcher studying disease that cripples newborns

... type 1 myotonic dystrophy (DM1) a common form of muscular dystrophy because they have mild symptoms or none at all, notes Mani S. Mahadevan, M.D. a pathologist at the University of Virginia Health System and winner of the 2007 Rachel Fund Award for myotonic dystrophy (DM) research. DM1 is the nations mo...

Parkinson's protein protects neurons from stress induced cell death

...n of this messenger substance causes symptoms like muscular tremor at rest and restricted mobility and even complete immobility. Characteristic deposits are found in the brain, the Lewy corpuscles. Little is known about the causes of Parkinsons disease. It has only been known for a few years that ten to fi...

Dinosaur hearing, listening to muscle noise, quieter cubicles

...e information about neuromuscular disease, such as muscular dystrophy. Muscle stiffness was traditionally measured using external radiation sources (such as a vibrating piston). But the Scripps researchers use a process called passive elastography, a low-cost, in-vivo, non-invasive technique in which an arra...

Landmark study identifies large number of new proteins implicated in Huntington's disease

...s as many people as hemophilia, cystic fibrosis or muscular dystrophy. The symptoms of HD typically begin to appear in mid-life, although the progression of the disease varies among individuals and within the same family....

News tips from the Journal of Neuroscience

...ka, Manabu Doyu, and Gen Sobue Spinal and bulbar muscular atrophy (SBMA) is caused by expansion of the polyglutamine (polyQ) repeat in the androgen receptor (AR) gene. As a result, motor neurons die. Misfolded mutant proteins also accumulate in the nucleus associated with components of the ubiquitin-proteas...

New clues for treatment of disease that causes accelerated aging

... other more prevalent disorders including forms of muscular dystrophy and heart disease. In addition, recent studies by other labs have shown that occasional errors in the production of lamin A may take place even in people with "normal" copies of the gene. Scientists suspect that accumulation of these bad co...

Salk scientists hammer out a pathway that promotes muscle cell survival in mice

...f many diseases that affect cell survival, such as muscular dystrophy, neurodegenerative diseases, and congestive heart failure." Montminys team, led by postdoctoral researcher Rebecca Berdeaux, Ph.D., first became interested in the enzyme when they observed that mice engineered to have a defect in a molec...

First demonstration of muscle restoration in an animal model of Duchenne muscular dystrophy

... of muscle function in a mouse model of Duchenne's muscular dystrophy (DMD). The research appears ahead of print in an advanced online publication of Nature. "This new class of treatment has the potential to help a large number of patients with different genetic diseases that have the same type of mutation,...

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