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Latest Mutation Stories

2012-03-24 04:43:19

A collaboration by an international consortium of researchers led by scientists at Baylor College of Medicine and the Montreal Neurological Institute of McGill University have linked the discovery of a mutation in a mitochondrial gene in fruit flies that causes the loss of neurologic function (a neurodegenerative set of characteristics or phenotype) and a progressive recessively inherited ataxia or neurodegenerative disorder in humans. A report in the online, open access journal PLoS...

2012-03-22 11:01:22

HudsonAlpha researcher part of international team When the intestines are not able to properly process our diet, a variety of disorders can develop, with chronic diarrhea as a common symptom. Chronic diarrhea can also be inherited, most commonly through conditions with genetic components such as irritable bowel syndrome. Researchers in Norway, India, and at the HudsonAlpha Institute for Biotechnology have identified one heritable DNA mutation that leads to chronic diarrhea and bowel...

2012-03-21 10:28:57

A collaborative study by scientists at Baylor College of Medicine (BCM) and the Montreal Neurological Institute of McGill University, and published March 20 in the online, open access journal PLoS Biology, has discovered that mutations in the same gene that encodes part of the vital machinery of the mitochondrion can cause neurodegenerative disorders in both fruit flies and humans. Vafa Bayat in Dr. Hugo Bellen's lab at BCM, examined a series of mutant fruit flies for defects leading to...

2012-03-19 19:19:07

A new study by University of Notre Dame biologist Michael Pfrender and a team of researchers from the University of Nevada-Reno, Utah State University and the University of Virginia suggests that snakes from different regions of the world have evolved a similar, remarkable resistance to a deadly neurotoxin. The finding, which appeared in the Proceedings of the National Academy of Sciences, greatly increases scientists' understanding of the genetic basis of adaptation and is a model for...

Gene Mutation Responsible For Severe Form Of Epilepsy Identified
2012-02-24 06:02:48

Researchers at the University of Arizona have identified a previously unknown mutation in a sodium channel protein in the central nervous system as the likely cause of a severe form of epilepsy. Such deciphering of the genetic information from a single individual in a matter of weeks to find a certain disease-causing genetic mutation would have been unthinkable just a decade ago. But today, a team of researchers led by Michael Hammer applied Next Generation Genome Sequencing to decipher...

2012-02-16 13:05:09

Gene alterations that shorten the body's largest protein could improve diagnosis, treatment of dilated cardiomyopathy, a familial heart disease For decades, researchers have sought a genetic explanation for idiopathic dilated cardiomyopathy (DCM), a weakening and enlargement of the heart that puts an estimated 1.6 million Americans at risk of heart failure each year. Because idiopathic DCM occurs as a familial disorder, researchers have long searched for genetic causes, but for most...

2012-02-06 13:09:24

New technology described in the Journal of Molecular Diagnostics DNA sequencing to detect genetic mutations can aid in the diagnosis and selection of treatment for cancer. Current methods of testing DNA samples, Sanger sequencing and pyrosequencing, occasionally produce complex results that can be difficult or impossible to interpret. Scientists at the Johns Hopkins University School of Medicine have developed a free software program, Pyromaker, that can more accurately identify such...

2012-02-03 19:00:17

Many living organisms suffer from parasites, which use the hosts´ resources for their own purposes. The problem of parasitism occurs at all levels right down to the DNA scale.  Genomes may contain up to 80% “foreign” DNA but details of the mechanisms by which this enters the host genome and how hosts attempt to combat its spread are still the subject of conjecture.  Important new information comes from the group of Christian Schlötterer at the...

2012-02-01 07:09:04

(Ivanhoe Newswire) — Your body talks. It tells you when you're hungry and it tells you when you're tired. The body's sleep-wake cycle is controlled by the hormone melatonin. Melatonin regulates the body´s release of insulin, which in turn regulates the body´s blood sugar level. In 2008, a genetic study led by Imperial College London discovered that people with common variations in the gene for MT2, a receptor for melatonin, have a slightly higher risk of being diagnosed with...

X Factor Determined Chimpanzee Development
2012-01-31 04:36:24

Genetic mutations that boost an individual´s adaptability have greater chances of getting through to X chromosomes — at least in chimpanzees, according to new Danish research. One of the most important questions for evolution researchers is how a species develops and adapts during the course of time. An analysis of the genes of twelve chimpanzees has now demonstrated that the chimpanzee X chromosome plays a very special role in the animal´s development. The analysis was...