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Europe-wide minimum standards for genetic testing called

The CDU / CSU Group in the European Parliament has called for Europe-wide minimum standards for genetic testing. "There are problems we must address at a European level," said the deputy chairman of the CDU deputy Peter Liese, on Thursday to journalists in Berlin. These included

setting quality standards for the tests and a previous advisory duty. Currently, in Germany that genetic in the development, the final second and third reading of the Federal Parliament will follow in a few weeks.

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bill of the Federal Government: Draft law on genetic studies in man (Gene Diagnostics Law - GenDG), BT-printed matter 16/10532, 13.10.2008 http://www.aerzteblatt.de / v4/plus/down.asp? type = pdf & id = 3113

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gene of rolandic epilepsy gene discovered

The rolandic epilepsy, the most common form of childhood epilepsy is probably due to a common developmental disorder of the brain. This is in the results of an international group of researchers in the European Journal of Human Genetics (2009, doi: 10.1038/ejhg.2008.267) close.

The rolandic epilepsy begins in Ages 3 to 12 years. The attacks typically set in the morning just after waking. The children complain of paraesthesia of the lip, tongue and palate. It comes to a perioral twitching and a distortion of the lips and cheeks. In the attack, the children can not speak or swallow. There is a strong flow of saliva.

The rolandic epilepsy is benign in most cases. At the age of 12 to 14 years are virtually free of seizures all concerned with and without treatment. Typical of the disease are zentrotemporale spikes in the EEG.

Like many other seizure disorders, the rolandic epilepsy a strong genetic component, which called the group to Deb Pal from Columbia University in New York to a genome-wide linkage study prompted that led to the discovery of a locus on chromosome 11p13.

is where the gene for the Elongator complex protein 4 (ELP4) localized. ELP4 belongs to a group of parent genes that affect the reading of other genes (transcription regulator). It was not yet brought himself to human disease related, but a number of minor genes are known to be a possible cause of epilepsy.

The association with ELP4 is a surprise. Actually, the researchers had expected to encounter a gene that functions as a specific ion channel interfere, for herein is commonly the cause of epilepsy suspected.

The present discovery shows that the rolandic epilepsy is not a disease of an ion channel, but rather a disorder of neuronal connections.

This could explain why the disease grows in most children. If the results should be confirmed by other study groups, we will examine in the next step, whether children have with other related developmental disorders similar genetic disorder.

Among the disturbances, attention deficit, Sprachdyspraxien and developmental coordination disorder. These children often found the same EEG changes wie bei der Rolando-Epilepsie und der Nachweis der gleichen Gendefekte würde natürlich die Vermutung verstärken, dass es sich um verwandte Erkrankungen handelt

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Abstract der Studie http://www.nature.com/ejhg/journal/vaop/ncurrent/abs/ejhg2008267a.html

Pressemitteilung der Columbia Universität http://www.cumc.columbia.edu/news/press_releases/090128_RolandicEpilepsy.html

DÄ-Artikel Epilepsie im Kindes- und Jugendalter http://www.aerzteblatt.de/v4/archiv/artikel.asp?src=suche&id=59870

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increased risk of complications after bypass surgery

Patienten mit einer frequent gene variant must be maintained for longer after bypass surgery in the ICU. This report Canadian researchers in Critical Care (online edition).

The genetic variant influences the concentration of interleukin 18 (IL-18), the experts have a material impact on inflammatory response after surgery to update. Previous studies had shown that high IL-18 levels are often associated with a complicated postoperative course.

Keith Walley from the University of British Columbia in Vancouver, this now leads back to a point mutation in the IL18 gene. Institution of the so-called TT genotype in the 9545 T / G polymorphism had three times more likely longer than three days in the ICU stay than patients with other variants of TG or GG.

Walley suggested that the TT genotype increases the expression of IL-18 and thus increases the post-operative inflammation. A clinical relevance stems from the fact that 58 percent of the patients were carriers TT genotype, so the more the rule than the exception is. http://ccforum.com/imedia/2945597102206208_article.pdf

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PDF of the study

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WEF poliert Image auf



Some newspapers reported recently so on the WEF:

The lavish parties of Wall Street bankers are to be past.
The parties are now held to a more modest level: less caviar, Dom Perignon instead it is white wine and exotic food is in place this year offered more local specialties. Business leaders know that if they stood this year in Davos, with special monitoring of the public.

Doch diese Bescheidenheit darf offenbar nicht gefilmt werden.

Das Schweizer Fernsehen befand sich am Dienstag zu Dreharbeiten in der Küche eines Fünfstern-Hotels und wollte die Zubereitung von Hummer zeigen. Das SF-Team wurde aber sofort mit einem Drehverbot belegt.

Wenn schon dass filmen eines Hummers verboten wird, damit sie uns die guten Absichten vorgaukeln können. Dann können wir uns vorstellen, welche Lügen sie uns sonst noch erzählen.

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The Adventure of persons

On 8 February 2009 vote by the sovereign on the continued movement of persons and its expansion to Romania and Bulgaria. By the fact that the movement of persons is part of the Bilateral Agreements I, on voting day decisions are taken regarding the future European policy of Switzerland.

rejects the voters from the draft so are all the other agreements der Bilateralen I weg. Die Frage, ob die EU die Verträge kündigt oder nicht, ist obsolet; es ist keine Kündigung notwendig, da diese gemäss Abkommen automatisch hinfällig werden. Es drängt sich nun schon die Frage auf, ob es sich die Schweiz, welche zu den Ländern mit den höchsten Anteilen des Aussenhandels am Bruttoinlandprodukt zählt, gerade in der derzeitigen Wirtschaftssituation leisten kann, die Beziehungen zur wichtigsten Wirtschaftspartnerin aufs Spiel zu setzen. Gut 60% der Ausfuhren gehen in die EU und ca. 80% der Importe stammen aus dem EU-Raum. Neben dieser engen wirtschaftlichen Verflechtung kommt hinzu, dass die EU keinen Versuch auslassen wird, bei einer Neuverhandlung der Abkommen weitere delikate Dossiers to link. Switzerland would accordingly be in a weak bargaining position. I will not paint the devil on the wall, but for example, would increase pressure on bank secrecy inevitable. The EU would try to break the bank secrecy, which will ultimately lead to a weakening of major financial center. To support the relevance of the banking sector for the Swiss economy, a reference sufficient to recent turmoil in financial markets.

For these reasons, I would put a YES on this subject in the urn. The last years have shown that the Bilateral I and proven path to prosperity and more jobs have. It is not recommendable to overthrow by rejection in an adventure.

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gene variants: Indian heart failure gene found

One in 25 people in the Indian subcontinent, the carrier of a gene variant that of a five- cases in late adulthood leads to heart failure. This is an international group of researchers reported in Nature Genetics (2009, doi: 10.1038/ng.309).

The gene contains the information for the cardiac myosin binding protein C (MYBPC3). It is part of the sarcomere, namely the contraction of the muscle apparatus. The mutation leads to loss of 25 letters of the genetic code.

's group from the Madurai Kamaraj Perundurai Dhandapany University, Madurai (in the southern Indian state of Tamil Nadu) estimates that the deletion is approximately 30,000 years old. It is therefore older than the cultural caste system and therefore on all social boundaries in all the tribes and the followers of different religions, India in the eighth on a very segregation represented. The high prevalence of 4 percent, the researchers explain the fact that the cardiomyopathy is manifest only in late adulthood, and therefore no negative selection is suspended.

carriers of the gene have a seven-fold increased risk of a cardiomyopathy. The lifetime risk is indicated by 25 percent. This and the very high prevalence of the gene to make according to the British Heart Foundation, a screening under the British South Asian origin (along with India that includes Pakistan and Sri Lanka) certainly debatable. admit it but still no idea how the could be helped in this way discovered people said A spokesman of the Society of British cardiologist.

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pain gene regulates learning and memory

The gene DREAM, which is crucial to the processing of pain seems to also influence learning and memory to have. These researchers found

in Vienna and Seville out by studies in mice. The new findings could help explain the development of Alzheimer's disease, and provide new approaches for its treatment.

With the identification of the DREAM gene a team from the University of Toronto in 2002 was a great success. The corresponding protein produced by calcium reguliert wird, erfüllt eine Schlüsselfunktion bei der Wahrnehmung der unterschiedlichsten Arten von Schmerz. Mäuse, denen das Gen fehlt, lassen deutlich eine stark reduzierte Schmerzempfindlichkeit erkennen, während sie ansonsten völlig normal erscheinen.

Die Forschungsarbeiten wurden im Labor von Josef Penninger durchgeführt, der heute das Institut für Molekulare Biotechnologie der Österreichischen Akademie der Wissenschaften (IMBA) in Wien leitet. Die Publikation, in der die Schmerzausschaltung bei Mäusen beschrieben wurde, erregte entsprechend großes Aufsehen (Cell 108 vom 11.1.2002). DREAM wurde in der Folge als "Master-Gen" der Schmerzwahrnehmung bezeichnet.

Ein Team um Ángel Manuel Carrión neurobiologists from the University Pablo de Olivade (Seville) took the DREAM-less mouse now a closer look. In collaboration with Josef Penninger, the animals were subjected to numerous neurological tests in which their memory and willingness to learn were analyzed. The result: without DREAM protein mice learn faster and retain information longer. And, more fascinating: the brain 18 months "old" mice proved to be as powerful as that of relatively young animals.

DREAM turns out to be an important candidate in the development of dementia. A connection with the development of Alzheimer's disease is not unlikely. Already Mid-2008 have been published studies that suggest a derailment of calcium regulation as the underlying cause of Alzheimer's disease near. The known accumulation of amyloid protein would therefore also be interpreted as a consequence of abnormal calcium metabolism in brain cells.

Even the DREAM gene is dependent in activity of calcium.

seems here thus close a circuit in which DREAM occupies a key position and influence on calcium balance both pain perception and memory and brain aging. In this context, experiences suggest even with pain patients whose memory is greatly reduced.

"The results of this study are surprising and fascinating," said Josef Penninger the discovery. "The fact that one and the same gene regulates pain, learning, memory and age, is of particular interest, as millions of people living with chronic pain."

Work "Lack of DREAM protein enhances learning and memory and slows brain aging" (. Fontan-Lozano et al) is read in the current issue of the journal Current Biology (Curr Biol 2009 Jan. 13, pp 54th - 60).



IMBA IMBA - Institute of Molecular Biotechnology of the Austrian Academy of Sciences, combines basic and applied research the field of biomedicine. Interdisciplinary research groups work on functional genetics, particularly in connection with the development of disease. The aim is to translate this knowledge into novel approaches to prevention, diagnosis and treatment of diseases.

IMP-IMBA Research Center

The Research Institute of Molecular Pathology (IMP), established in 1988 was founded by Boehringer Ingelheim, and the operation in 2003, Institute for Molecular Biotechnology of the Austrian Academy of Sciences (IMBA) was a close research collaboration agreed. Under the name "IMP-IMBA Research Center", the two Institutions on a common infrastructure for scientific and administrative fields. The two institutions employ over 400 people from 30 nations are members of the Campus Vienna Biocenter. Prof. Josef Penninger



Link: http://www.imba.oeaw.ac.at/research/josef-penninger/