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Last updated on April 18, 2014 at 17:24 EDT

Latest Mutation Stories

2013-09-30 10:17:55

As so many genome studies do, this study published online in the journal Nature Genetics began with a single patient and his parents who were in search of a diagnosis. The parents of this first patient sought genetic testing for Prader-Willi syndrome when he was only a year old, but the test, which was still in its infancy, came back negative. For the next 12 years, his parents were left in limbo. He had many features of the disease – including lack of muscle tone, feeding difficulties...

2013-09-26 13:11:00

Sometimes, when the DNA in a cell is copied during cell division, there is a mistake. A large portion of the genetic material could be duplicated or deleted. In each instance, there is often a greatly enhanced potential for serious genetic disease. Such changes are known as copy number variation (CNV) referring to the numbers of copies of a gene. Instead of ‘letters of the DNA alphabet’ being changed or missing, whole sentences, entire paragraphs or even pages/volumes of the encyclopedia...

2013-09-12 13:30:43

Japanese researchers have identified a mutation associated with a higher incidence of lung cancer in Japanese women who do not smoke, but better survival in lung cancer patients. In a study published today in the journal PLOS ONE, the team from the RIKEN Center for Life Science Technologies shows that a single nucleotide polymorphism (SNP) in a gene that protects cells from oxidative stress is found four times more frequently in women than in men. Lung cancer is the leading cause of...

2013-09-09 20:21:12

Research from St. Jude Children's Research Hospital, Memorial Sloan-Kettering Cancer Center and the University of Washington identifies a mutation that predisposes individuals to most common form of childhood leukemia MEMPHIS, Tenn., Sept. 9, 2013 /PRNewswire-USNewswire/ -- Researchers have discovered the first inherited gene mutation linked exclusively to acute lymphoblastic leukemia (ALL) occurring in multiple relatives in individual families. The discovery of the PAX5 gene...

2013-09-09 11:32:11

Discovery provides target to potentially halt the process, prevent cancers Biologists reported today in Nature that they have identified two pathways through which chromosomes are rearranged in mammalian cells. These types of changes are associated with some cancers and inherited disorders in people. "Our finding provides a target to prevent these rearrangements, so we could conceivably prevent cancer in some high-risk people," said senior author Edward P. (Paul) Hasty, D.V.M., of the...

2013-08-28 21:43:32

Study strengthens link between amyotrophic lateral sclerosis (ALS) and problems in protein production machinery of cells and identifies possible treatment strategy Researchers have tied mutations in a gene that causes amyotrophic lateral sclerosis (ALS) and other neurodegenerative disorders to the toxic buildup of certain proteins and related molecules in cells, including neurons. The research, published recently in the scientific journal Cell, offers a new approach for developing...

Cystic Fibrosis Genetics Breakthrough
2013-08-26 12:46:54

Brett Smith for redOrbit.com - Your Universe Online With over 1,900 mutations in the genes responsible for cystic fibrosis (CF), separating the harmful alterations form the benign ones has been a long, arduous undertaking for geneticists. In a new report published in Nature Genetics, researchers describe major progress in determining which mutations are which, increasing the number of recognized CF-causing mutations from 22 to 127. The new findings represent 95 percent of the...

2013-08-26 11:55:31

Concealed within the vastness of the human genome, (comprised of some 3 billion base pairs), mutations are commonplace. While the majority of these appear to have neutral effect on human health, many others are associated with diseases and disease susceptibility. Reed Cartwright, a researcher at Arizona State University's Biodesign Institute, along with colleagues at ASU, Washington University and the Wellcome Trust Sanger Institute, Cambridge, UK, report on a new software tool known as...

Scientists Discover Aneuploidy In Single-celled Organisms
2013-08-14 14:57:39

University of Luxembourg Baker's yeast is a popular test organism in biology. Yeasts are able to duplicate single chromosomes reversibly and thereby adapt flexibly to environmental conditions. Scientists from the Luxembourg Centre for Systems Biomedicine (LCSB) of the University of Luxembourg, in collaboration with colleagues from the US Institute for Systems Biology (ISB) in Seattle, have now systematically studied the genetics of this process, which biologists refer to as aneuploidy. The...

2013-08-02 12:30:50

Two women have the same genetic mutation – an abnormal BRCA1 gene that puts them both at much higher-than-average risk for breast cancer – but only one woman develops the disease. Why? Michigan State University genetic scientists have begun to understand the mechanisms behind the phenomena. "It's been known for a while that genetic mutations can modify each other," explained Ian Dworkin, MSU associate professor of zoology. "And we also know that the...