Mutation News and Research

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Mutation in a single gene can cause epilepsy in infants

New research from the Howard Florey Institute in Melbourne has shown why mutation in a single gene can cause epilepsy in infants.

4 Oct 2007

Ground-breaking techniques to study telomeres in human cells may lead to early cancer detection

A test to detect the very early stages of cancer could one day result from new research by Cardiff University scientists.

4 Oct 2007

Linking two molecular pieces may offer new approaches to treating Alzheimer's disease

Researchers have uncovered a biological link between the protein whose mutation causes early-onset Alzheimer's disease (AD) and a gene variant linked to late-onset AD.

4 Oct 2007

Brain needs perfection in synapse number

Like Goldilocks, the brain seeks proportions that are just right. The proper number of synapses or communication between nerve cells, determined early in life, is crucial to having a healthy brain that can learn and retain information.

4 Oct 2007

Imatinib has ability to cure type of leukemia

In people with chronic myeloid leukemia (CML), the drug Imatinib has been shown to drive cancer into remission, but the disease often returns when treatment is stopped.

3 Oct 2007

Many American women misinformed about breast cancer

Although most U.S. women consider themselves to be knowledgeable about breast cancer, many have inaccurate information, according to a survey released Monday by the National Breast Cancer Coalition, the Chicago Tribune reports.

2 Oct 2007

Breast cancer screening

As part of Breast Cancer Awareness Month in October, experts at The University of Texas M. D. Anderson Cancer Center encourage women to learn about recommended screening guidelines to improve their chances for early detection of breast cancer.

2 Oct 2007

Gene that lowers cell stress could protect against Parkinson's disease

The discovery of a relationship between two cell enzymes and their role in keeping the cell's energy generating machinery working smoothly could provide a new target for development of therapies for Parkinson's disease (PD).

2 Oct 2007

Worm study sheds light on how the human body ages

Microscopic worms used for scientific research are living longer despite cellular defects, a discovery that is shedding light on how the human body ages and how doctors could one day limit or reverse genetic mutations that cause inherited diseases, according to a new University of Colorado at Boulder study.

2 Oct 2007

Protein architectures provide window on the history of life

The present can tell you a lot about the past, but you need to know where to look.

2 Oct 2007

Botched production of insulin molecule may lead to diabetes

Picture a pretzel factory production line, with conveyer belts carrying the dough, formed into unbaked pretzels, down to the oven to be cooked.

2 Oct 2007

Researchers discover one of the mechanisms that prevents the spread of colon cancer

The first step in the development of colon cancer is the formation of benign tumours, called adenomas, in the intestine. Over time, these tumours may progress to produce colon cancer if they undergo a series of mutations and genetic alterations.

1 Oct 2007

Gene that lowers cell stress could protect against Parkinson’s disease

1 Oct 2007

Loss of TDP-43 gene found to be related to age-related neurological disorders

Researchers at Mayo Clinic in Jacksonville have discovered how loss of a gene can lead to accumulation of toxic proteins in the brain, resulting in a common dementia, and they say this mechanism may be important in a number of age-related neurological disorders.

27 Sep 2007

New view of what causes greatest genetic variability among individuals

A study by Yale researchers offers a new view of what causes the greatest genetic variability among individuals - suggesting that it is due less to single point mutations than to the presence of structural changes that cause extended segments of the human genome to be missing, rearranged, or present in extra copies.

27 Sep 2007

Discovery of new pathway causing cell death related to frontotemporal dementia and ALS

Scientists have discovered a link between a mutated gene and a protein found in dead brain cells of people who suffer from a form of dementia and other neurological disorders.

27 Sep 2007

Smallpox evolved earlier than believed

Smallpox is older than thought, according to results of a new technique reported in the Sept. 24 issue of the Proceedings of the National Academy of Sciences by researchers from Lawrence Livermore National Laboratory and the Centers for Disease Control (CDC).

27 Sep 2007