Mutation News and Research

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Study links cone death in retinitis pigmentosa to metabolic problem

Rods and cones coexist peacefully in healthy retinas. Both types of cells occupy the same layer of tissue and send signals when they detect light, which is the first step in vision.

8 Dec 2008

Scientists create infectious prion disease in mouse model

A worldwide group of scientists has created an infectious prion disease in a mouse model, in a step that may help unravel the mystery of this progressive disease that affects the nervous system in humans and animals.

8 Dec 2008

Incyte's selective Janus kinase inhibitor demonstrates rapid and durable clinical benefits in Myelofibrosis patients

Incyte Corporation will present updated results from an ongoing Phase II trial of INCB18424, its selective, orally available Janus kinase (JAK) inhibitor, in patients with myelofibrosis (MF) at the 50th American Society of Hematology (ASH) Annual Meeting.

8 Dec 2008

Body clock and sleep patterns linked to diabetes and high blood sugar

Diabetes and high levels of blood sugar may be linked to abnormalities in a person's body clock and sleep patterns, according to a genome-wide association study published today in the journal Nature Genetics.

7 Dec 2008

Dormant stem cells for emergencies

Many specialized cells, such as in the skin, intestinal mucosa or blood, have a lifespan of only a few days.

5 Dec 2008

Discovery of MEDNIK syndrome

Canadian researchers announce the discovery of MEDNIK Syndrome, a debilitating genetic syndrome.

5 Dec 2008

Mad Cow disease strain found to be more virulent than classical strain

An atypical prion strain of mad cow disease, also called bovine spongiform encephalopathy or BS, is more virulent than the classical strain, according to a researcher who spoke Nov. 14 at Kansas State University.

3 Dec 2008

Motor neurons derived from human embryonic stem cells provide insight into ALS

Two new research studies use motor neurons derived from human embryonic stem (hES) cells to demonstrate that multiple toxic pathways contribute to the devastating degeneration associated with Amyotrophic Lateral Sclerosis (ALS) and that protective therapeutics will need to oppose the disease on multiple fronts.

3 Dec 2008

Genetic breakdown in Fanconi anemia may have link to HPV-associated cancer

A genetic malfunction that causes DNA instability in people with the blood disorder Fanconi anemia may put them at high risk for squamous cell carcinomas linked to human papillomavirus (HPV), according to a study posted online ahead of print by Oncogene.

3 Dec 2008

New insights into cellular senescence

Scientists have identified a molecular cause behind the ravages of old age and in doing so have also shown how a natural process for fighting cancer in younger persons can actually promote cancer in older individuals.

3 Dec 2008

Researchers develop human embryonic stem cell-based system for modeling ALS

Long thought of as mere bystanders, astrocytes are crucial for the survival and well-being of motor neurons, which control voluntary muscle movements.

3 Dec 2008

Adropin protein produced by the liver sends signal that fat is on the way in response to high-fat foods

After you eat a burger and fries or other fat-filled meal, a protein produced by the liver may send a signal that fat is on the way, suggests a report in the December issue of the journal Cell Metabolism , a Cell Press publication.

3 Dec 2008

Fruit flies provide better understanding of human heart disease

Researchers at the Burnham Institute for Medical Research have shown in both fruit flies and humans that genes involved in embryonic heart development are also integral to adult heart function.

3 Dec 2008

Lab on a microfluidic chip for the GP's surgery

If doctors were able to conduct efficient genetic analysis at the point of care, using inexpensive, portable equipment, it would revolutionise disease detection and treatment. European researchers are close to enabling this revolution.

2 Dec 2008

Advance in K-Ras-mutated cancer research

A team of cancer researchers from several Boston academic medical centers has discovered a potential treatment for a group of tumors that have resisted previous targeted therapy approaches.

30 Nov 2008

Protein-misfolding accelerates yeast evolution

Under stress, yeast cells can unleash a remarkable mechanism based on protein-misfolding that gives them new characteristics without requiring genetic mutations.

28 Nov 2008

Discovery of new way in which epigenetic information is inherited

Hereditary information flows from parents to offspring not just through DNA but also through the millions of proteins and other molecules that cling to it.

28 Nov 2008

Researchers identify a potentially universal mechanism of aging

Like our current financial crisis, the aging process might also be a product excessive deregulation.

26 Nov 2008

Mouse model of prion disease mimics diverse symptoms of human disorder

A comprehensive mouse model of inherited prion disease exhibits cognitive, motor, and neurophysiological deficits that bear a striking resemblance to the symptoms experienced by patients with the human version of "mad cow disease," Creutzfeldt-Jakob disease (CJD).

26 Nov 2008

Defective calcium metabolism in nerve cells contributes to neurological disorder

Defective calcium metabolism in nerve cells may play a major role in a fatal genetic neurological disorder that resembles Huntington's disease, researchers at UT Southwestern Medical Center have found in a mouse study.

26 Nov 2008