Mutation News and Research

RSS

Mitochondria - the energy factories in our cells - can sustain a cancer

University of Glasgow scientists have discovered how mitochondria - the energy factories in our cells - can sustain a cancer, reporting their findings in a new study published in Cancer Cell.

31 Jan 2005

Gene dynamin 2 underlies one form of Charcot-Marie-Tooth disease

A gene that plays many fundamental roles in cells throughout the body has, for the first time, been implicated in human disease, according to researchers at the Duke Center for Human Genetics.

31 Jan 2005

Significant advance toward understanding lifelong process of blood cell formation

A research study published in the February issue of Developmental Cell expands on previous studies by using adult animals to examine the role of a key gene known to be required for blood cell formation. Information gained from this research will be useful for future studies aimed at directing stem cell differentiation in a variety of potential therapeutic contexts.

31 Jan 2005

Psychiatric illness drugs may protect the brain cells that die in people with Huntington's disease

Researchers at UT Southwestern Medical Center have discovered that drugs commonly used to treat psychiatric illnesses and blood disorders in humans may protect the brain cells that die in people with Huntington's disease, possibly delaying the onset and slowing the progression of the disease.

31 Jan 2005

Researchers identify new genes necessary for embryonic development

Researchers at New York University and the medical schools at Harvard and Yale universities have identified new genes necessary for embryonic development, according to findings published in the latest issue of Genome Research.

31 Jan 2005

Physical traits, genetic test help with early diagnosis of aneurysm syndrome

A research team led by Johns Hopkins doctors has defined the physical traits and genetic basis of a new aortic aneurysm syndrome that is extremely aggressive and can cause death in early childhood. Early diagnosis of the syndrome and rapid surgical repair of the swollen aorta can save lives, the researchers report in the Jan. 30 advance online section of Nature Genetics.

30 Jan 2005

Biochip for detection of inflammatory bowel disease

At the III International Symposium on Advanced Therapy for Chronic Inflammatory Bowel Disease, held in Madrid, the biotechnological company, Progenika, presented a DNA-chip the purpose of which is the optimisation of the diagnosis, prognosis and treatment of patients with inflammatory bowel disease (Crohn’s disease and Ulcerous Colitis).

26 Jan 2005

Why some men develop aggressive prostate cancer that becomes resistant to hormone-withdrawal therapy

Researchers found that certain mutations in a protein called the androgen receptor cause advanced and invasive prostate cancer when put into otherwise healthy mice. The androgen receptor's normal function is to control growth of the prostate gland in response to cues from male hormones called androgens, which have long been thought to stimulate prostate tumors.

26 Jan 2005

Novel nanotechnology detects human DNA mutations

Researchers at Nanosphere, Inc. have reported unprecedented benefits in the company's technology for the medical analysis of human DNA.

26 Jan 2005

Evolutionarily ancient enzyme-repair system used to identify type of DNA damage responsible for the onset of skin-tumor development

In a finding that broadens our insight into the cause of certain kinds of UV-induced skin cancer, researchers at Erasmus University Medical Center (Rotterdam, The Netherlands) have employed an evolutionarily ancient enzyme-repair system to identify the principal type of DNA damage responsible for the onset of skin-tumor development.

26 Jan 2005

Genetic defect leads to electrical instability and mechanical pump failure

In genetic mapping of a large family with several members affected by a type of heart failure called dilated cardiomyopathy (DCM), the Mayo Clinic team found a defect in a gene on chromosome 3 called SCN5A.

26 Jan 2005

Modern humans have sloppy gene control mechanisms which can make us susceptible to diseases

Our evolutionary ancestors’ lack of choice in the mating game has left modern humans exposed to disease, according to new research published in the journal PLOS Biology today.

25 Jan 2005

Scientists identify fat gene

UCLA/VA scientists have identified a new gene that controls how the body produces and uses fat. Called lipin, the gene may provide a new target for therapies to control obesity, diabetes and other weight-related disorders. The first issue of the new journal Cell Metabolism publishes the findings in its January 2005 edition.

19 Jan 2005

Single gene mutation as the cause of around one in 25 cases of Parkinson’s disease worldwide

The studies suggest that the mutation, in a recently discovered gene called LRRK2, causes around 5% of inherited Parkinson’s cases and around 2% of isolated cases. Screening for the new mutation is likely to become a component of genetic testing for Parkinson’s disease in the near future.

17 Jan 2005

Anti-seizure drugs slow aging in roundworms

Researchers at Washington University School of Medicine in St. Louis have discovered that a class of anti-seizure medications slows the rate of aging in roundworms. The worms, when exposed to drugs used to treat epilepsy in humans, lived longer and retained youthful functions longer than normal.

17 Jan 2005