Mutation News and Research

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New genome sequencing technology quickly detects rare viral mutations

Rare, previously undetectable drug-resistant forms of HIV have been identified by Yale School of Medicine researcher Michael Kozal, M.D., using an innovative genome sequencing technology that quickly detects rare viral mutations.

19 Jun 2007

PINK1 protects from Parkinson's

Parkinson disease (PD) is a common neurodegenerative disease characterized by the selective loss of midbrain dopaminergic neurons.

19 Jun 2007

Faster, less expensive technique for mutating large, non-gene stretches of DNA

Genes account for only 2.5 percent of DNA in the human genetic blueprint, yet diseases can result not only from mutant genes, but from mutations of other DNA that controls genes.

19 Jun 2007

Many of the areas of the human genome previously thought to be deserts are in fact teeming with life

Most known human genes in the genome map are still incompletely annotated, says Professor Alexandre Reymond, from the Centre for Integrative Genomics, University of Lausanne, Switzerland and the Department of Genetic Medicine, University of Geneva, Geneva, Switzerland.

19 Jun 2007

Vietnam on alert after latest human bird flu death

Authorities in Vietnam have confirmed the death of a man from bird flu, the country's 43rd victim of the deadly virus.

18 Jun 2007

Wurst protein plays a decisive role in breathing

A newly discovered transmembrane protein called "Wurst" (sausage) appears to play a decisive role in breathing ? possibly in all animals, from flies to human beings.

18 Jun 2007

Research on rare women's lung disease may yield insights into common diseases

For many decades, medical research studies focused primarily on men and the results of countless studies were then applied to women.

18 Jun 2007

Scientists link cell's protein recycling systems

Many age-related neurological diseases are associated with defective proteins accumulating in nerve cells, suggesting that the cell's normal disposal mechanisms are not operating correctly.

17 Jun 2007

Novel mutation associated with muscle identified

The study demonstrates that muscle weakness experienced by persons with a regulatory protein tropomyosin mutation is directly related to a mechanism by which the mutant tropomyosin modulates contractile speed and force-generation capacity.

17 Jun 2007

Synaptic dysfunction in Huntington's disease

Huntington's disease is a hereditary disorder that primarily affects the brain, leading to death within just over a decade.

17 Jun 2007

Researchers use 'genomic pathway' to predict Parkinson's

A new Mayo Clinic study provides strong evidence that the joint effects of common DNA variations in several genes that encode proteins within a well-defined biological pathway largely explain why some persons get Parkinson's disease while others don't, and even predict with great accuracy at what age people might develop their first symptoms.

17 Jun 2007

Discovery of IKBKE gene linked to breast cancer

Using a novel three-part screening process, scientists at Dana-Farber Cancer Institute have identified a gene that is made inappropriately in about a third of all breast cancers.

17 Jun 2007

RAS signaling of circadian output

In the June 15th issue of G&D, Drs. Jay Dunlap and Jennifer Loros, with colleagues at Dartmouth Medical School, have finally cloned the band gene, and have found that it is an allele of ras-1.

17 Jun 2007

Gene implicated in the development of cancer cells can be switched on using drugs

A gene implicated in the development of cancer cells can be switched on using drugs, report researchers from the University of Michigan Comprehensive Cancer Center.

16 Jun 2007

Breakdown of myelin may be the cause of Huntington's disease

Last month, Dr. George Bartzokis, director of the UCLA Memory Disorders and Alzheimer's Disease Clinic, suggested in the journal Alzheimer's & Dementia that the breakdown of a type of myelin that develops late in life promotes the buildup of toxic amyloid plaques long associated with Alzheimer's disease.

16 Jun 2007

Early life sun exposure linked to melanomas with BRAF gene mutations

Skin cancers often contain different gene mutations, but just how these mutations contribute to the cause of melanomas has been a mystery.

16 Jun 2007

Scientists decode RNA mystery

A team of University of Maryland scientists have made a discovery that will help better direct drug therapies to their molecular targets.

15 Jun 2007

Structure of protein altered in autism revealed

As a result of mapping the structure of the protein complex implicated in autism spectrum disorders, a research team led by scientists at the University of California, San Diego (UCSD) Skaggs School of Pharmacy and Pharmaceutical Sciences has discovered how particular genetic mutations affect this complex and contribute to the developmental abnormalities found in children with autism.

15 Jun 2007

New genetic cause for Joubert syndrome

An international study by researchers at Seattle Children?s Hospital Research Institute, the University of Washington School of Medicine, and Radboud University in Nijmegen, Netherlands has identified a new genetic cause for Joubert syndrome (JS).

15 Jun 2007

Nanoparticle-enabled peptide delivery triggers tumor regression

Cells possess a variety of ways of dealing with mutations that can cause them to grow uncontrollably and eventually form a tumor. The tumor suppressor gene p53 plays a critical role in these cancer prevention processes, largely by triggering a form a cell death known as apoptosis.

14 Jun 2007