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duminică, 5 august 2012

Body Tremors Have A Genetic Cause

Essential tremor (ET), an involuntary shaking movement (tremor) that occurs with motion, especially when performing precise fine movement, is the most prevalent movement disorder, and it becomes increasingly frequent with increasing age. The latest issue of The American Journal of Human Genetics now reveals that researchers from Montreal University and its affiliated CHU Sainte-Justine and CHUM hospitals have managed to link some cases of Essential Tremor (ET) to a specific genetic problem.

Researchers and clinicians have investigated for years as to why this shaking occurs, but have so far remained unsuccessful. Even though scientists know that the problem is related to parts of the brain that control certain muscles, they have been unable to identify the exact cause for this malfunction in the nervous system of those affected by ET. Strong evidence of years of research suggested that the disease is due to genetics but until now researchers have been unable to identify the actual genetic link.

The fact that mutations in a gene called FUS (Fused in Sarcoma) cause amyotrophic lateral sclerosis (ALS), a nerve cell disease in the brain and spinal cord that controls voluntary muscle movement, is already known amongst scientists. However, the new study was able to successfully identify mutations that cause ET in FUS, and also managed to provide evidence that the disease mechanisms for ET and ALS FUS mutations are different.

Leading author Dr. Nancy Merner, explained:

"When I started my post-doctoral work in the Rouleau laboratory, I felt compelled to study essential tremor. I saw a great opportunity to identify the first ET gene considering the plethora of families collected for study in the laboratory, and the availability of new sequencing technologies that has revolutionized gene discovery efforts. As a proof of principle study, we chose one family to sequence and took a simple approach to overcome particular clinical barriers that have hindered previous gene discovery attempts."

Her clinical focus is shared by her other team members. Dr. Guy Rouleau declared:

"This discovery has provided the world with the first insight toward the disease mechanism of essential tremor, which is crucial for disease management, particularly for future drug developments. It also presents a logical approach that can be used for additional ET gene discoveries, which we are currently pursuing."

Dr. Patrick Dion, another key researcher on this project, added: "There is currently a lack of consensus on the diagnostic criteria of ET thus a genetic diagnosis can be beneficial, especially for familial cases. Transitioning to a genetic diagnosis would cut down on ET misdiagnosis."

37-50% of individual cases are misdiagnosed.

Affected individuals usually feel embarrassed or annoyed at the tremors that impact their everyday tasks like eating, writing, working, or drinking as these tremors most often affect the hands and make it difficult for those affected to hold or use small objects.

Dr. Merner concludes: "Our overall goal in this endeavor is to improve the quality of life of affected individuals. The road is now paved for improvement."

Written by Petra Rattue
Copyright: Medical News Today
Not to be reproduced without permission of Medical News Today

Visit our genetics section for the latest news on this subject. "Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor"
Nancy D. Merner, Simon L. Girard, Hélène Catoire, Cynthia V. Bourassa, Véronique V. Belzil, Jean-Baptiste Rivière, Pascale Hince, Annie Levert, Alexandre Dionne-Laporte, Dan Spiegelman, Anne Noreau, Sabrina Diab, Anna Szuto, Hélène Fournier, John Raelson, Majid Belouchi, Michel Panisset, Patrick Cossette, Nicolas Dupré, Geneviève Bernard, Sylvain Chouinard, Patrick A. Dion, Guy A. Rouleau
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Iced Tea May Cause Kidney Stones

Summer is high season for drinking iced tea. However, a John Miller, Loyla University Medical Center urologist warns that iced tea can contribute to painful kidney stones because of its high concentration of oxalate, one of the key chemicals that lead to the formation of kidney stones.

Around 10% of people in the U.S. suffer from kidney stones, a common disorder of the urinary tract.

Dr. John Milner, assistant professor at the Department of Urology at Loyola University Chicago Stritch School of Medicine explains: "For people who have a tendency to form the most common type of kidney stones, iced tea is one of the worst things to drink."

Drinking an insufficient amount of fluids is the most common cause of kidney stones, and during the summer, when people can become dehydrated from sweating, the combined effect of dehydration together with drinking a lot of iced tea can raise the chance of developing kidney stones, particular in those already at risk.

Milner said:

"People are told that in the summertime they should drink more fluids. A lot of people choose to drink more iced tea, because it is low in calories and tastes better than water. However, in terms of kidney stones, they might be doing themselves a disservice."

Even though hot tea also contains oxalate, Milner said that it is difficult to drink sufficient amounts to cause kidney stones and figures from the Tea Association of the USA reveal that around 85% of tea consumed in the United States is iced.

In comparison with women, men are four times more likely to develop kidney stones, and the risk rises dramatically for those aged 40 years or older. Women with low estrogen levels like postmenopausal women and those with their ovaries removed are also at a higher risk.

Kidney stones are small mineral and salt crystals that are typically deposited in the urine in the kidneys or ureters, the small tubes that transport the urine from the kidney to the bladder. Usually kidney stones are so small they are expelled in the urine without causing any harm. However, sometimes the stones grow large enough to get lodged in the ureters, causing pain and discomfort.

Milner recommends drinking water or real lemonade, not the powdered version to quench thirst and properly hydrate as the best option, saying: "Lemons are high in citrates, which inhibit the growth of kidney stones."

He also recommends that those who are at risk for kidney stones should reduce certain foods that contain high concentrations of oxalates, including spinach, chocolate, rhubarb and nuts and eat less salt and meat, drink several glasses of water a day and eat foods that provide adequate amounts of calcium as this reduces the amount of oxalate the body absorbs.

For those drinking iced tea, who already suffering from kidney stones, Milner advises to consult a specialist to see if the drink could be a contributing factor, as it fairly simple to check an overproduction of oxalates.

Milner advises: "Like many people, I enjoy drinking iced tea in the summer. But don't overdo it. As with so many things involving a healthy lifestyle, moderation is key."

Written by Petra Rattue
Copyright: Medical News Today
Not to be reproduced without permission of Medical News Today

Visit our urology / nephrology section for the latest news on this subject. Please use one of the following formats to cite this article in your essay, paper or report:

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posted by Catia on 3 Aug 2012 at 4:18 pm

Where are the studies that directly link oxalate kidney stones to the amount of tea consumed? Also is fructose sweetened ice tea treated the same non sweetened tea? How high is the bioavailability of oxalate in tea. High oxalate content doesn't mean it is available.

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joi, 8 decembrie 2011

Likely Cause Of Essential Tremor Discovered

Main Category: Neurology / Neuroscience
Article Date: 08 Dec 2011 - 1:00 PST

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Researchers from the CHUQ research center and Universite Laval have discovered the likely cause of essential tremor (ET), a neurological disorder that affects more than 10 million North Americans. The team's promising findings were published in a recent edition of the scientific journal Brain.

Frequently confused with Parkinson's disease, ET is the most common involuntary movement disorder. An estimated 4% of the population over 40 is affected by this neurological condition which manifests as muscle tremors, normally in the face, neck, and vocal chords.

The research team noticed a decrease in the concentration of GABA receptors in the cerebellum of patients suffering from ET. GABA receptors relay "chemical messages" which transmit inhibitory information to the different parts of the brain and play an essential role in the human body. A loss of GABA receptors in the cerebellum could affect the function of the cerebellum, an organ beneath the brain that manages communication between the brain and muscles and coordinating movements.

"This is one of the first demonstrations of biochemical changes in the cerebellum in patients with ET. It's a real step forward that opens the doors to new avenues of research, and perhaps to new treatments down the road. It's possible that stimulating GABA receptors could help patients control, or even reduce, essential tremor," said Dr. Frédéric Calon, researcher at the CHUQ research center and professor at Université Laval's Faculty of Pharmacy. "This is one of the first times such large sample groups have been used to study ET," he continued.

Article adapted by Medical News Today from original press release. Click 'references' tab above for source.
Visit our neurology / neuroscience section for the latest news on this subject. In addition to Dr. Calon, study authors were Sarah Paris-Robidas, Élodie Brochu, Marion Sintes, Vincent Emond, Mélanie Bousquet, Milène Vandal, Mireille Pilote, Cyntia Tremblay, and Thérèse Di Paolo from the CHUQ research center and Université Laval's Faculty of Pharmacy, as well as Ali H. Rajput and Alex Rajput from the University of Saskatchewan.
The research was made possible by a grant from the International Essential Tremor Foundation.
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