Mutation News and Research

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The accumulation of sugar in neurons may explain the origin of several neurodegenerative diseases

A phenomenon considered healthy for cells, such as the accumulation of long chains of glucose (glycogen), which tissues store for energy purposes, is harmful for neurons.

22 Oct 2007

Stem cells to treat damaged eyes and a rare skin disorder

Doctors and scientists in Italy have shown how stem cells can be used to treat damaged eyes and, in combination with gene therapy, a rare and debilitating skin disease.

22 Oct 2007

New explanation for evolutionary changes in genetic sex-determination systems

In animals with separate sexes, embryos commit to becoming male or female at an early stage.

22 Oct 2007

Researcher identify specific cell that causes eye cancer, disproving long-held theory

Investigators at St. Jude Children's Research Hospital have identified the cell that gives rise to the eye cancer retinoblastoma, disproving a long-standing principle of nerve growth and development.

19 Oct 2007

Oral medication restores missing protein in boys with muscular dystrophy

PTC124, an oral medication that changes the way muscle cells interpret genetic information, holds promise as a treatment for some patients with Duchenne muscular dystrophy (DMD), the Muscular Dystrophy Association ( http://www.mda.org/ ) announced today.

19 Oct 2007

New links in the cystic fibrosis chain uncover potential therapeutics

Cystic fibrosis (CF) is an inherited disease caused by mutations in the CFTR gene.

19 Oct 2007

Childhood epilepsy research offers new hope for seizure control

Scientists still do not know what causes epileptic seizures, but researchers from Melbourne's Howard Florey Institute are one step closer to solving this puzzle with the help of their newly developed genetically modified epileptic mouse.

18 Oct 2007

Sex hormone signature indicates gender rather than just chromosomes

Help with assigning gender could one day be at hand for intersex individuals whose genital phenotypes and sex chromosomes don't match, thanks to the discovery of a stable sex hormone signature in our cells.

18 Oct 2007

Massive microRNA scan uncovers leads to treating muscle degeneration

Researchers have discovered the first microRNAs - tiny bits of code that regulate gene activity - linked to each of 10 major degenerative muscular disorders, opening doors to new treatments and a better biological understanding of these debilitating, poorly understood, often untreatable diseases.

18 Oct 2007

Defects in Jhdm2a gene could be the cause for some cases of male infertility

Scientists at the University of North Carolina at Chapel Hill have identified a gene crucial to the final step of the formation of a functional sperm cell.

18 Oct 2007

Phase II map of human genetic variation

The International HapMap Consortium today published analyses of its second-generation map of human genetic variation, which contains three times more markers than the initial version unveiled in 2005.

18 Oct 2007

Scientists discover how HIV evolves

University of Florida scientists have discovered how HIV evolves over the course of a person's lifetime into a more deadly form that heralds the onset of full-blown AIDS.

17 Oct 2007

Proteins that underlie cancer

A University of Arkansas scientist who studies constructs of a protein that are associated with the cell transformation that causes cancer has received a five-year, $661,018 grant from the National Institutes of Health to expand his research.

17 Oct 2007

Study identifies pathway required for normal reproductive development

Massachusetts General Hospital (MGH) clinical researchers, in collaboration with basic scientists from the University of California, Irvine (UC Irvine) have identified a new molecular pathway required for normal development of the reproductive, olfactory and circadian systems in both humans and mice.

17 Oct 2007

Structure of influenza B virus protein gives clues to next pandemic

Determining the structure of a protein called hemagglutinin on the surface of influenza B is giving researchers at Baylor College of Medicine and Rice University in Houston clues as to what kinds of mutations could spark the next flu pandemic.

17 Oct 2007

Scientists map flu's chemical key

Scientists from Baylor College of Medicine (BCM) and Rice University have developed a three-dimensional, molecular map that could yield clues about the genetic mutations that will allow bird flu to spread among humans.

17 Oct 2007

Insomniac fish help understand the genetics behind sleep disorders

Scientists at the Stanford University School of Medicine have hooked a fish that suffers from insomnia in their quest to understand the genetics behind sleep disorders.

16 Oct 2007

Direct selection of human genomic loci by microarray hybridization

Researchers at Baylor College of Medicine and Roche NimbleGen Inc., a fully integrated part of Roche Applied Science, have published details of a highly efficient and cost-effective method for capturing targeted regions of the genome via NimbleChip microarrays in preparation for high-throughput 454 Sequencing.

16 Oct 2007

New insight into Herceptin resistance in breast cancer

A new study provides important insight into the mechanisms involved in resistance to treatment of breast cancer patients with trastuzumab (Herceptin). The research, published by Cell Press in the October issue of the journal Cancer Cell , identifies markers that may help to identify patients who are unlikely to respond to trastuzumab treatment and provides a potential strategy for treating these patients.

16 Oct 2007

Enhanced DNA-repair mechanism can cause breast cancer

Although defects in the "breast cancer gene," BRCA1, have been known for years to increase the risk for breast cancer, exactly how it can lead to tumor growth has remained a mystery.

16 Oct 2007