by Uppsala University Researchers at Uppsala University have developed a method for identifying functional mutations and their effect on genes relevant to the development of glioblastoma—a malignant brain tumor with a very poor prognosis. The study is published in Genome Biology. The human genome consists of nearly 22,000 genes. Many studies have explored the nearly...
Tag: <span>DNA</span>
Discovery of a novel gene involved in DNA damage repair and male fertility
Clarifying the mechanisms for meiotic recombination in sperm production KUMAMOTO UNIVERSITY A research group from the Institute of Molecular Embryology and Genetics (IMEG)at Kumamoto University, Japan has discovered that the gene C19ORF57 plays a critical role in meiosis. The gene appears to be related to the cause of male infertility and could be a big...
Scientists reveal how mutations in metabolism can drive cancers
by Yale University Our cells have several ways to repair DNA that breaks when the cells divide. However, genetic mutations can disable these DNA repair mechanisms, destabilize the cells, and trigger cancer. In a paper published today in the journal Nature, Yale Cancer Center (YCC) scientists have identified mutations in metabolite-producing genes as a disruption...
Genetic database provides rare disease clues and Parkinson’s hope
by Kate Wighton, Imperial College London Scientists have created the world’s largest publicly available database of genetic variants—changes in DNA that can sometimes lead to disease. The use of this resource, called the Genome Aggregation Database (gnomAD) and including information from over 140,000 people from across the globe, is described in a landmark collection of...
Troublemaking ‘lesion’ singled out in UV-caused skin cancer
Finding may help explain caffeinated coffee’s link to a reduced risk of melanoma. The researchers used an enzyme from plants and marsupials to distinguish the lesion. Upon exposure to human skin, ultraviolet light from the sun almost instantly generates two types of “lesions” that damage DNA. It has long been unknown, though, whether one of...
Greedy for glucose: Cancer cells rely on a primeval energy-producing pathway to proliferate and spread
by Delthia Ricks , Medical Xpress To fuel their rapid proliferation, tumor cells rely on glycolysis, a primordial metabolic pathway that is easily exploited by cancers to gain energy to grow—and spread. Glycolysis is the oldest form of energy production in living cells. It has been around for billions of years, having emerged before oxygen...
The self-synthesizing ribosome
As the cell’s protein factory, the ribosome is the only natural machine that manufactures its own parts. That is why understanding how the machine, itself, is made, could unlock the door to everything from understanding how life develops to designing new methods of drug production. An intensive, long research effort at the Weizmann Institute of...
Additional genetic cause for non-alcoholic fatty liver disease discovered
In Germany about 18 million people suffer from non-alcoholic fatty liver. The causes of this disease are manifold and include environmental as well as genetic factors. DZD researchers have now discovered new genes that play a role in the development of fatty liver. In humans and mice, respectively, the genes IRGM, Ifgga2 and Ifgga4 are...
Alleviating Effects of Muscular Dystrophy
By Reginald Davey Reviewed by Michael Greenwood, M.Sc. Muscular dystrophy is a debilitating muscle disorder that causes a gradual weakening of the muscles in sufferers worldwide. Alleviating the adverse effects of the disorder are of concern to researchers and health professionals worldwide. What is muscular dystrophy? Muscular dystrophy affects approximately 1 in 3,500 male births....
Genome-wide pattern found in tumors from brain cancer patients predicts life expectancy
by University of Utah Health Sciences In her Genomic Signal Processing Lab, Alter develops new mathematical methods that are uniquely suited for personalized medicine. Credit: Nathan L. Galli, University of Utah For the past 70 years, the best indicator of life expectancy for a patient with glioblastoma (GBM)—the most common and the most aggressive brain...