Tag Archives: genetic mutation

Man’s best friend shares similar ‘albino’ gene

Michigan State University researchers have identified a genetic mutation in Doberman pinschers that causes albinism in the breed, a discovery that has eluded veterinarians and breeders worldwide up until now.

Paige Winkler, a doctoral student in the College of Veterinary Medicine, co-led the study with Joshua Bartoe, an assistant professor in the Department of Small Animal Clinical Sciences, and discovered a mutated gene that is associated with a form of albinism in humans. (more…)

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Tiny Capsule Effectively Kills Cancer Cells

Scientists create nanoscale vehicle to battle cancer without harming healthy cells

A tiny capsule invented at a UCLA lab could go a long way toward improving cancer treatment.
Devising a method for more precise and less invasive treatment of cancer tumors, a team led by researchers from the UCLA Henry Samueli School of Engineering and Applied Science has developed a degradable nanoscale shell to carry proteins to cancer cells and stunt the growth of tumors without damaging healthy cells.

In a new study, published online Feb. 1 in the peer-reviewed journal Nano Today, a group led by Yi Tang, a professor of chemical and biomolecular engineering and a member of the California NanoSystems Institute at UCLA, reports developing tiny shells composed of a water-soluble polymer that safely deliver a protein complex to the nucleus of cancer cells to induce their death. The shells, which at about 100 nanometers are roughly half the size of the smallest bacterium, degrade harmlessly in non-cancerous cells. (more…)

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Global Research Team Discovers New Alzheimer’s Risk Gene

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…)

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Berkeley Lab Scientists Help Develop Promising Therapy for Huntington’s Disease

Initial results in mice could lead to new way to fight neurodegenerative diseases

There’s new hope in the fight against Huntington’s disease. A group of researchers that includes scientists from the U.S. Department of Energy’s Lawrence Berkeley National Laboratory (Berkeley Lab) have designed a compound that suppresses symptoms of the devastating disease in mice.

The compound is a synthetic antioxidant that targets mitochondria, an organelle within cells that serves as a cell’s power plant. Oxidative damage to mitochondria is implicated in many neurodegenerative diseases including Alzheimer’s, Parkinson’s, and Huntington’s. (more…)

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When she says, ‘It’s not you, it’s me,’ it really might be you, UCLA study suggests

Women with stable but not-so-sexy mates become more distant, critical during periods of high fertility

Long after women have chosen Mr. Stable over Mr. Sexy, they struggle unconsciously with the decision, according to a new study by UCLA researchers who look at subtle changes in behavior during ovulation.

At their most fertile period, these women are less likely to feel close to their mates and more likely to find fault with them than women mated to more sexually desirable men, the research shows. (more…)

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Scientists Measure Communication between Stem Cell-Derived Motor Neurons, Muscle Cells

In an effort to identify the underlying causes of neurological disorders that impair motor functions such as walking and breathing, UCLA researchers have developed a novel system to measure communication between stem cell–derived motor neurons and muscle cells in a Petri dish.

The study provides an important proof of principle that functional motor circuits can be created outside the body using these neurons and cells and that the level of communication, or synaptic activity, between them can be accurately measured by stimulating the motor neurons with an electrode and then tracking the transfer of electrical activity into the muscle cells to which the neurons are connected. (more…)

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Research Shows Why One Bacterial Infection is So Deadly in Cystic Fibrosis

COLUMBUS, Ohio – Scientists have found why a certain type of bacteria, harmless in healthy people, is so deadly to patients with cystic fibrosis.

The bacterium, Burkholderia cenocepacia, causes a severe and persistent lung infection in patients with CF and is resistant to nearly all known antibiotics. Cystic fibrosis is a chronic disorder characterized by a buildup of mucus in the lungs and other parts of the body, and various types of lung infection are responsible for about 85 percent of deaths in these patients. (more…)

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Will a Genetic Mutation Cause Trouble? Ask Spliceman

New, free Web-based software described in the journal Bioinformatics analyzes DNA sequences to determine if mutations are likely to cause errors in splicing of messenger RNA. When gene splicing goes awry, a wide variety of diseases can result.

PROVIDENCE, R.I. [Brown University] — In a brief paper in the journal Bioinformatics, Brown University researchers describe a new, freely available Web-based program called Spliceman for predicting whether genetic mutations are likely to disrupt the splicing of messenger RNA, potentially leading to disease.

“Spliceman takes a set of DNA sequences with point mutations and computes how likely these single nucleotide variants alter splicing phenotypes,” write co-authors Kian Huat Lim, a graduate student, and William Fairbrother, assistant professor of biology, in an “application note” published in advance online Feb. 10. It will appear in print in April. (more…)

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