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Harmful Protein-Coding Mutations in People arose Largely in the Past 5,000 to 10,000 Years

By Guest PostDecember 2, 2012Sciencea, africa migration, african, age, alzheimer, c, dating, discovery, dna code, dna sequence, Europe, european ancestry, evolutionary geneticist, future generation, g, gene, genetic variants, hardening, harmful, heart arteries, human, human diaspora, joshua akey, mesopotamia, metabolic pathways, middle east, model, mutation, nucleotide, out of africa, paralysis, premature ovarian failure, protein coding gene, protein coding mutation, seattle, single nucleotide, t, tap energy, university, variation, Washington, wenqing fu

A study dating the age of more than 1 million single-letter variations in the human DNA code reveals that most of these mutations are of recent origin, evolutionarily speaking. These kinds of mutations change one nucleotide – an A, C, T or G – in the DNA sequence. Over 86 percent of the harmful protein-coding mutations of this type arose in humans just during the past 5,000 to 10,000 years.

Some of the remaining mutations of this nature may have no effect on people, and a few might be beneficial, according to the project researchers. While each specific mutation is rare, the findings suggest that the human population acquired an abundance of these single-nucleotide genetic variants in a relatively short time. (more…)

Global Research Team Discovers New Alzheimer’s Risk Gene

By Guest PostNovember 20, 2012Healthalzheimer's disease, data, disease, emerging theory, environmental factors, eric karran, function, genetic, genetic mutation, genetic risk, genetic variants, health secretary, immune system, injury, institute, jeremy hunt, john hardy, key area, neurology, r47h, risk, rita guerreiro, specific mutation, trem2 gene, ucl, variant

Scientists have discovered a rare genetic mutation that increases the risk of Alzheimer’s disease.

The international team, led by researchers at the UCL Institute of Neurology, studied data from more than 25,000 people and found a link between a rare variant of the TREM2 gene – which is known to play a role in the immune system – and a higher risk of Alzheimer’s.

The paper, which is published in the New England Journal of Medicine, has major implications for our understanding of the causes of Alzheimer’s and the authors believe it is potentially the most influential gene discovery for the disease in the last two decades. (more…)

Geoscientists Find Key to Why Some Patients Get Infections from Cardiac Implants

By Guest PostOctober 26, 2011Health, Scienceamericans, antibiotics, atomic force microscopy, bacteria adhere to mineral surfaces, bacterial and human proteins, bacterial cells, biofilm, biofilm formation, biofilm of persistent bacteria, blood infection bacteremia, charles darwin, common human blood protein, contaminated device, deadly blood infection, defibrillators, duke university medical center, enriqueta barrera, eric taylor, fibronectin, fibronectin binding protein a, gene mutations, genetic variants, geobiologists, heart implants, human body, implanted cardiac devices, infections, l barth reller, molecular dynamics simulations, nadia casillas ituarte, national science foundation, ohio state university, pacemakers, patients with implants, prosthetic cardiac valves, proteins of infectious bacteria, ruchirej yongsunthon, single nucleotide polymorphisms, snips, snps, solid substrate, staph bacteria, staphylococcus aureus, steven lower, supaporn lamlertthon, united states, vance fowler

*Bacterial cells have gene mutations that allow them to ‘stick’ to the devices*

New research suggests that some patients develop a potentially deadly blood infection from their implanted cardiac devices because bacterial cells in their bodies have gene mutations that allow them to stick to the devices.

Geoscientists were the major contributors to the finding.

Proceedings of the National Academy of Sciences published the study results online this week. (more…)

Tag Archives: genetic variants

Harmful Protein-Coding Mutations in People arose Largely in the Past 5,000 to 10,000 Years

Global Research Team Discovers New Alzheimer’s Risk Gene

Geoscientists Find Key to Why Some Patients Get Infections from Cardiac Implants