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Latest Mutation Stories

2012-08-13 11:12:47

Max Planck scientist investigates the evolutionary model of Muller's ratchet From protozoans to mammals, evolution has created more and more complex structures and better-adapted organisms. This is all the more astonishing as most genetic mutations are deleterious. Especially in small asexual populations that do not recombine their genes, unfavorable mutations can accumulate. This process is known as Muller's ratchet in evolutionary biology. The ratchet, proposed by the American geneticist...

2012-07-30 13:45:09

A five-country international team, led by Casey Eye Institute Molecular Diagnostic laboratory, BGI and Zhejiang University School of Medicine First Affiliated Hospital identified the NMNAT1 mutations as a cause of Leber congenital amaurosis (LCA), one of the most common causes of inherited blindness in children. The latest study was published online in Nature Genetics, reporting the genetic characteristics underlying some LCA patients, and providing important evidences that support NMNAT1 as...

2012-07-30 12:53:15

Researchers from the Massachusetts Eye and Ear Infirmary, The Children's Hospital of Philadelphia, Loyola University Chicago Health Sciences Division and their collaborators have isolated an elusive human gene that causes a common form of Leber congenital amaurosis (LCA), a relatively rare but devastating form of early-onset blindness. The new LCA gene is called NMNAT1. Finding the specific gene mutated in patients with LCA is the first step towards developing sight-saving gene therapy....

2012-07-16 10:19:02

Disruption of cytoskeleton pathways contribute to ALS pathogenesis A new genetic mutation that causes familial amyotrophic lateral sclerosis (ALS), a fatal neurological disorder also known as Lou Gehrig's Disease, has been identified by a team of scientists led by researchers at the University of Massachusetts Medical School (UMMS). Mutations to the profilin (PFN1) gene, which is essential to the growth and development of nerve cell axons, is estimated to account for one to two percent of...

Mutations In Autism Gene Increases Risk In Boys
2012-07-12 17:40:48

Researchers at Emory University School of Medicine have identified five rare mutations in a single gene that appear to increase the chances that a boy will develop an autism spectrum disorder (ASD). Mutations in the AFF2 gene, and other genes like it on the X chromosome, may explain why autism spectrum disorders affect four times as many boys as girls. The mutations in AFF2 appeared in 2.5 percent (5 out of 202) boys with an ASD. Mutations in X chromosome genes only affect boys, who...

2012-07-11 13:49:14

Listed below are the selected highlights for the July 2012 issue of the Genetics Society of America's journal, Genetics. The July issue is available online at www.genetics.org/content/current. Please credit Genetics, Vol. 191, JULY 2012, Copyright © 2012. ISSUE HIGHLIGHTS Increasing association mapping power and resolution in mouse genetic studies through the use of meta-analysis for structured populations, pp. 959-967 Nicholas A. Furlotte, Eun Yong Kang, Atila Van Nas, Charles R....

2012-07-02 22:01:44

Changing tissue landscape and not necessarily accumulated oncogenic mutations drive cancer rates higher in the elderly Cancers are age-related, much more frequent in the old than in the young. A University of Colorado Cancer Center review published today in the journal Oncogene argues against the conventional wisdom that the accumulation of cancer-causing mutations leads to more cancer in older people, instead positing that it is the changing features of tissue in old age that promote...

2012-06-29 06:15:57

(Ivanhoe Newswire) -- Using a human induced pluripotent stem cell (iPSC) from a patient suffering from Huntington´s disease, researchers at the Buck Institute for Research on Aging have corrected the genetic mutation that is responsible for the disease. To accomplish this process, researchers took the diseased iPSCs, made the genetic correction, generated neural stem cells, and then transplanted the mutation-free cells into a mouse model of Huntington´s disease where they are...

2012-06-28 20:25:11

Frequency-dependent selection fosters the diversity of populations but does not always increase the average fitness of the population. Genetic diversity arises through the interplay of mutation, selection and genetic drift. In most scientific models, mutants have a fitness value which remains constant throughout. Based on this value, they compete with other types in the population and either die out or become established. However, evolutionary game theory considers constant fitness values...

Massive Brain Asymmetry Caused By Gene Mutations
2012-06-25 09:41:28

Discovery could help lead to prevention of radical surgery in rare childhood disease Hemimegalencephaly is a rare but dramatic condition in which the brain grows asymmetrically, with one hemisphere becoming massively enlarged. Though frequently diagnosed in children with severe epilepsy, the cause of hemimegalencephaly is unknown and current treatment is radical: surgical removal of some or all of the diseased half of the brain. In a paper published in the June 24, 2012 online issue of...


Word of the Day
mundungus
  • A stinking tobacco.
  • Offal; waste animal product; organic matter unfit for consumption.
This word comes from the Spanish 'mondongo,' tripe, entrails.