Mutation News and Research

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Genetic tests for Alzheimer’s disease a comfort for the majority

Several genetic tests are available for Alzheimer’s disease, both for the general public and for those with a family history of the disease. As direct-to-consumer testing over the internet rises, so have concerns over how people will handle information related to their risk of developing Alzheimer’s disease.

17 Jul 2012

Targeting CDK1 pathway may be efficacious for acute myeloid leukemias with FLT3 mutation

Acute myeloid leukemia, a common leukemia in adults, is characterized by aberrant proliferation of cancerous bone marrow cells. Activating mutations in a protein receptor known as FLT3 receptor are among the most prevalent mutations observed in acute myeloid leukemias. FLT3 mutants are thought to activate several signaling pathways that contribute to cancer development.

17 Jul 2012

UMMS scientists identify new genetic mutation that causes familial ALS

A new genetic mutation that causes familial amyotrophic lateral sclerosis (ALS), a fatal neurological disorder also known as Lou Gehrig's Disease, has been identified by a team of scientists led by researchers at the University of Massachusetts Medical School (UMMS).

16 Jul 2012

IDH mutation drives aggressive form of acute myeloid leukemia

Many patients with acute myeloid leukemia (AML) share a mutation in a gene called IDH. A University of Colorado Cancer Center study published this week in the journal Leukemia & Lymphoma shows that this IDH mutation may be the first domino in a chain that leads to a more aggressive form of the disease.

16 Jul 2012

Researchers link newly discovered gene mutations to ALS

Researchers have linked newly discovered gene mutations to some cases of the progressive fatal neurological disease amyotrophic lateral sclerosis - ALS, also known as Lou Gehrig's disease. Shedding light on how ALS destroys the cells and leads to paralysis, the researchers found that mutations in this gene affect the structure and growth of nerve cells.

16 Jul 2012

Five rare mutations in single gene increase chances of boys developing ASD

Researchers at Emory University School of Medicine have identified five rare mutations in a single gene that appear to increase the chances that a boy will develop an autism spectrum disorder (ASD).

13 Jul 2012

PGC-1alpha and TFEB provide two new therapeutic targets for Huntington's disease

In a paper published in the July 11 online issue of Science Translational Medicine, researchers at the University of California, San Diego School of Medicine have identified two key regulatory proteins critical to clearing away misfolded proteins that accumulate and cause the progressive, deadly neurodegeneration of Huntington's disease.

12 Jul 2012

Scientists assemble timeline of brain changes that lead to Alzheimer's

Scientists have assembled the most detailed chronology to date of the human brain's long, slow slide into full-blown Alzheimer's disease.

12 Jul 2012

New drug combination could offer hope to children with neuroblastoma

A new drug combination could offer hope to children with neuroblastoma - one of the deadliest forms of childhood cancer - by boosting the effectiveness of a promising new gene-targeted treatment.

12 Jul 2012

Thrombopoietin mimetic offers aplastic anemia hope

Eltrombopag significantly improves blood counts in some patients with refractory severe aplastic anemia, suggests research published in The New England Journal of Medicine.

11 Jul 2012

Study details development of first mouse model for Usher syndrome III

A new study published in the July 11 issue of the Journal of Neuroscience details the development of the first mouse model engineered to carry the most common mutation in Usher syndrome III causative gene (Clarin-1) in North America.

11 Jul 2012

Research finds new single-gene cause of chronic kidney disease

A new single-gene cause of chronic kidney disease has been discovered that implicates a disease mechanism not previously believed to be related to the disease, according to new research from the University of Michigan.

11 Jul 2012

DRCRF names 21 new Damon Runyon Fellows

The Damon Runyon Cancer Research Foundation, a non-profit organization focused on supporting innovative early career researchers, named 21 new Damon Runyon Fellows at its spring Fellowship Award Committee review.

11 Jul 2012

MiR-33 plays a key role in regulating bile metabolism

In research funded by the National Institutes of Health and the American Heart Association and published in EMBO Molecular Medicine, Saint Louis University investigator -ngel Bald-n, Ph.D., found that the microRNA miR-33 plays a key role in regulating bile metabolism. Further, the research suggests that, in an animal model, the manipulation of this microRNA can improve the liver toxicity that can be caused by statins.

10 Jul 2012

Sox10 gene plays a central role in melanoma

Black skin cancer, also known as melanoma, is particularly aggressive and becoming increasingly common in Switzerland. Despite intensive research, however, there is still no treatment. Researchers from the University of Zurich have now discovered a gene that plays a central role in black skin cancer. Suppressing this gene in mice inhibits the development of melanoma and its proliferation - a discovery that could pave the way for new forms of therapy.

10 Jul 2012

Read-through molecule improves muscle function in DMD

A compound that results in a read-through on nonsense mutations in messenger RNA restores dystrophin expression in an animal model of Duchenne muscular dystrophy, research shows.

9 Jul 2012

Gene defect linked to cluster of systemic complications

Research teams from The University of Texas Health Science Center at Houston (UTHealth) and Paris, France have discovered a gene defect linked to a cluster of systemic complications, including life-threatening thoracic aortic disease and intracranial aneurysms. The new syndrome is similar, but distinct from known syndromes such as Marfan and Loeys-Dietz syndrome.

9 Jul 2012

Novel gene therapy approach may treat dysferlinopathies

The challenge of treating patients with genetic disorders in which a single mutated gene is simply too large to be replaced using traditional gene therapy techniques may soon be a thing of the past. A Nationwide Children's Hospital study describes a new gene therapy approach capable of delivering full-length versions of large genes and improving skeletal muscle function. The strategy may hold new hope for treating dysferlinopathies and other muscular dystrophies.

9 Jul 2012

Researchers describe inflammatory mechanism of sunburn

The biological mechanism of sunburn - the reddish, painful, protective immune response from ultraviolet (UV) radiation - is a consequence of RNA damage to skin cells, report researchers at the University of California, San Diego School of Medicine and elsewhere in the July 8, 2012 Advance Online Publication of Nature Medicine.

9 Jul 2012

DNA from CF patients with and without chronic infections points to unsuspected mutation

Comparing the DNA from patients at the best and worst extremes of a health condition can reveal genes for resistance and susceptibly. This approach discovered rare variations in the DCTN4 gene among cystic fibrosis patients most prone to early, chronic airway infections.

9 Jul 2012