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Critical mechanistic link between mutant protein and disease pathogenesis in ALS uncovered

New research uncovers what may be a primary neuron-damaging insult that occurs in an inherited form of a devastating neurodegenerative disorder. The study, published by Cell Press in the August 26th issue of the journal Neuron, describes a critical mechanistic link between a mutant protein and disease pathogenesis in an animal model of amyotrophic lateral sclerosis (ALS).

26 Aug 2010

CFHR5 nephropathy linked to genetic mutation in innate immune system

A rare form of kidney disease linked to a genetic mutation in the innate immune system has been identified by researchers funded by the Wellcome Trust and the Medical Research Council.

26 Aug 2010

Gene linked to Fuchs corneal dystrophy discovered

A 13-member research team led by University of Oregon scientist Dr. Albert O. Edwards has found a gene likely responsible for Fuchs corneal dystrophy, an inheritable genetic disorder and leading cause of corneal transplant operations.

26 Aug 2010

Ataxin 2 gene mutation contributes to Lou Gehrig's disease: Research

An international study led by biologists and neuroscientists from the University of Pennsylvania has identified a new genetic risk factor for amyotrophic lateral sclerosis, commonly known as ALS or Lou Gehrig's disease.

26 Aug 2010

Scientists discover Magnetic Resonance Spectroscopy can rapidly diagnose degenerative disorders

Magnetic Resonance Spectroscopy can distinguish between neurological diseases in patients without clear symptoms.A team of American scientists claim that a new method of testing for neurological diseases could provide doctors with a rapid and non-invasively method of diagnosing degenerative disorders.

25 Aug 2010

Agilent Technologies introduces SureSelect Human All Exon v2 Target Enrichment kit for cancer assay

Agilent Technologies Inc.today introduced the SureSelect Human All Exon v2 Target Enrichment kit, which was developed in close collaboration with the Broad Institute of MIT and Harvard. The kit, the 15th SureSelect product in Agilent's portfolio, is a single tube assay that allows researchers to streamline experiments by sequencing the expressed genome while discarding regions not of interest.

25 Aug 2010

Researchers identify specific gene responsible for Kuf's disease

A North Carolina State University researcher has helped to locate and identify a gene responsible for a fatal neurodegenerative disease that affects American Staffordshire terriers. This same gene may be responsible for a similar rare, fatal disease in humans. Its discovery will lead to improved screening and diagnosis of the disease in dogs and is the first step in working toward a cure for both canines and humans.

25 Aug 2010

Mayo researchers develop new laboratory cell lines to study anaplastic thyroid cancer

To their deep dismay, researchers at Mayo Clinic discovered several years ago that laboratory samples of anaplastic thyroid cancer (ATC) they were using to help them find new treatments for this lethal disease were probably some other kind of cancer. It quickly became evident that the situation in their lab was common throughout the world. Up to half of the cell lines that were supposed to originate from patients with this rare thyroid cancer were either colon or melanoma cancer.

25 Aug 2010

Researchers identify molecular signals that impact male fertility: Research

Male infertility is a common medical problem, affecting millions of men in the United States annually. Its causes include an inability to make productive sperm. Now, using yeast as a model organism, researchers at the University of Pennsylvania School of Medicine are beginning to identify the molecular signals that could in part underlie that problem.

25 Aug 2010

AP reports on efforts to monitor authenticity of antimalarials, other drugs in Africa

The Associated Press reports on a recent effort to use text messages to track the authenticity of antimalarials in Africa, where "more than 30 percent of malaria medicines are estimated to be fake."

24 Aug 2010

Specific drugs can prevent lethal effects of Parkinson's disease: Research

Researchers at Johns Hopkins have shown that using specific drugs can protect nerve cells in mice from the lethal effects of Parkinson's disease. The researchers' findings are published in the August 22 issue of Nature Medicine.

24 Aug 2010

APC dysfunction prevents synapse function required for learning, memory: Study

A clue to the causes of autism and mental retardation lies in the synapse, the tiny intercellular junction that rapidly transfers information from one neuron to the next. According to neuroscientists at Tufts University School of Medicine, with students from the Sackler School of Graduate Biomedical Sciences at Tufts, a protein called APC plays a key role in synapse maturation, and APC dysfunction prevents the synapse function required for typical learning and memory.

23 Aug 2010

Researchers find new way to study oncogene's role in DNA repair

A key step in understanding the origins of familial breast cancer has been made by two teams of scientists at the University of California, Davis. The researchers have purified, for the first time, the protein produced by the breast cancer susceptibility gene BRCA2 and used it to study the oncogene's role in DNA repair.

23 Aug 2010

New diagnostic tool proves cost-effective in identifying rare genetic disorders

Mutations in a single gene can cause several types of developmental brain abnormalities that experts have traditionally considered different disorders. With support from the National Institutes of Health, researchers found those mutations through whole exome sequencing - a new gene scanning technology that cuts the cost and time of searching for rare mutations.

23 Aug 2010

Combination of 2 FDA approved drugs eliminate HIV infection

Researchers at the University of Minnesota Academic Health Center have identified two drugs that, when combined, may serve as an effective treatment for HIV.

21 Aug 2010

Research finds increased diagnostic activity among men with family history of prostate cancer

The brothers of men with prostate cancer are at an increased risk of prostate cancer diagnosis because of increased diagnostic activity and not necessarily because they carry a genetic mutation that increases risk of the disease, according to a study published online August 19 in The Journal of the National Cancer Institute.

20 Aug 2010

Scientists discover genetic flaw that causes facioscapulohumeral muscular dystrophy

Nearly two decades after they identified the specific genetic flaw that causes a common type of muscular dystrophy, scientists believe they have figured out how that flaw brings about the disease. The finding by an international team of researchers settles a longstanding question about the roots of facioscapulohumeral muscular dystrophy or FSHD.

20 Aug 2010

Deficiencies in DNA loop formation can cause multiple diseases: Research

The genes that are responsible for maintaining each cell type form DNA loops that link control elements for these genes. This surprising genome structure is generated and reinforced by two essential protein complexes that bridge the loops and contribute to proper gene regulation.

19 Aug 2010

Research shows mutation in Prox1 gene may lead to memory, learning problems

St. Jude Children's Research Hospital investigators showed a gene named Prox1 is a key player in normal development of a brain structure crucial for learning and memory and remains active throughout life, nurturing the cells vital for making new memories.This study focused on a small region of the hippocampus known as the dentate gyrus, a brain structure needed for memory and learning that is home to the subgranular zone where the neural stem cells destined to become granule cells are housed. The dentate gyrus is one of two regions of the adult brain where neural stem cells continue to produce the precursor cells that ultimately differentiate into neurons.

18 Aug 2010

Researchers develop genetically mutated stem cells for myelin research

Vanishing White Matter (VWM) disease is a devastating condition that involves the destruction of brain myelin due to a mutation in a central factor. To understand the disease and test potential treatments that could apply to other disorders, such as multiple sclerosis, Prof. Orna Elroy-Stein of Tel Aviv University's Department of Cell Research and Immunology is leading a scientific breakthrough by developing laboratory mice which carry the VWM mutation an important new tool.

18 Aug 2010