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The mechanisms of the syndrome of Lowe

The OCRL1 gene mutation changes the intracellular transport in kidney cells by preventing the re-absorption of proteins that are then eliminated in the urine. A clear mechanism that damages the kidneys in Lowe syndrome, a rare genetic disease that affects the eyes and brain to describe in the journal EMBO Journal is the team led by Antonella De Matteis Telethon Institute of Genetics and Medicine (TIGEM ) of Naples.

lowe syndrome

This rare syndrome is due to alterations of a gene, called OCRL1, which contains the information for an enzyme essential for the intracellular trafficking and transport of substances. Since this gene is located on the X chromosome, males are generally to be affected, while females are carriers. The disease is present at birth with congenital cataracts and severe hypotonia, then glaucoma, mental retardation and motor development, seizures, behavioral problems, kidney problems. Just renal failure is a symptom that puts at risk the lives of patients suffering from this disease, for which there is currently no cure. [...]

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Relieve the symptoms of withdrawal from opiate drugs

It opens the way to the study of drugs aimed at treating patients suffering from drug addiction. The University of Bordeaux in France is the author of an important discovery published in Molecular Psychiatry, one of the major international journals devoted to studies on the biological mechanisms underlying psychiatric disorders and their cure. The study, which was attended by Dr.. Francesco Papaleo neurotechnology the Department of Neuroscience and the Italian Institute of Technology (IIT), University of Bordeaux, “CRF2 receptor-deficiency eliminates opiate withdrawal distress without impairing stress-coping”, shows the presence of a target innovative block withdrawal symptoms from opiate drugs like heroin.

opiate drugs

The working group has demonstrated that inactivation of the receptor type 2 corticotropin-releasing factor (CRF2) eliminates the signs of physical and negative affective states observed in patients addicted to opiate drugs following the suspension of their engagement. However, the lack of this receptor does not affect the major physiological functions that are implemented by the human body in response to stressful events. [...]

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Neurons from embryonic stem cells against Parkinson’s disease

The work has produced neurons transplanted into animals with Parkinson’s have been integrated and produced dopamine, whose deficiency is the basis of these neurodegenerative diseases. A study published online by the journal Nature breaks new ground in research on neurodegenerative diseases through the use of human embryonic stem cells.

Researchers from four institutions led by Lorenz Studer of the American Memorial Sloan-Kettering Cancer Center in New York, have developed a new method to turn human embryonic stem cells into neurons in the brain. Transplanted into animals, cells are able to survive and integrate into the nervous system producing dopamine, the substance whose deficiency is the basis of diseases such as Parkinson’s disease.

Parkinsons disease

The important work is co-funded by NEUROSTEMCELL, a research consortium that includes 16 partners from 6 European countries and one (Studer’s research group) in the United States. The consortium, funded by the EU, aims to develop the application of stem cells to treat Parkinson’s disease and Huntington’s disease and is coordinated by Elena Cattaneo, director of the Center for Stem Cell Research, University of Milan. [...]

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RNAi to respond to sudden changes

In the face of sudden changes dictated by environmental cues and states of stress intereferenza cells exploit the RNA to implement rapid change. In the face of sudden changes dictated by environmental cues and states of stress, cells are called upon to make quick decisions. So, in case of crisis – from the greek krisis, “decision”, must be able to adapt their normal genetic program “braking” the power of their machines, like ships that have a sudden turn.

RNAi

RNAi

To discover for the first time how this happens on a global scale in the genome is Valerio Orlando, Dulbecco Telethon Institute researcher who works at the Saint Lucia Foundation of Rome: cells respond to crises directly modulating the activity of genes due to interference RNA, a mechanism very conserved in evolution, which in 2006 also earned its discoverers the Nobel Prize to Andrew Fire and Craig Mello. The study, funded by Telethon and the Italian Association of Cancer Research, with funding from the Ministry of Foreign Affairs (Projects of great significance Italy-Japan), has merited publication in Nature. [...]

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The use of drugs and their effect on brain function

The effects of the drug nicotine, heroin, cocaine and ecstasy on the human brain, showing the health consequences. It is generally known that drugs negatively affect the human body. Terms such as addiction and withdrawal symptoms are no strangers. But what exactly drugs cause in our brain? Because drugs are substances that psychological functions such as mental states or emotions in the brain can influence significantly.

drug use

Which drugs can be distinguished:

Drugs similar substances are also formed by the brain itself. Even in medicine are drugs, for example, used to relieve pain. The application field is still much more extensive. The best known, however, is the so-called abuse of illegal drugs such as opiates (cocaine, amphetamines), cannabis (hemp), hallucinogens (mescaline, LSD) and em-pathogen substances (ECSTASY). Since the different types of drugs include various drugs, and its effect on the brain is different. [...]

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Human embryonic stem cells in drug formulation

The EU prohibits the use of human embryonic stem cells in drug formulation:

The Court of Justice rejects the patent application of a treatment against Parkinson’s disease that involved the use of human embryos. On 19 December 1997, German researcher Oliver Brustle had patented a treatment that involved the use of embryonic stem cells for five days after fertilization. The product obtained from embryonic stem cells at the Blastocyst stage of neural progenitor cells, isolated and purified, was able to fight Parkinson’s disease.

embryonic stemcells

As soon as the news had spread, Greenpeace took action, and so the Patent Office in Germany canceled the registration of the patent, sparking the legal Brustle replication. The European Court is expressed only now and says: “From the moment of his human egg fertilization must all be considered as a human embryo, since fertilization is likely to start the process of developing a human being must also be recognized that the classification of human embryo unfertilized human egg even when it was implanted in a human cell nucleus and mature unfertilized human egg induced to divide and develop through parthenogenesis”. [...]

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