Machado Joseph disease (MJD) is a neurodegenerative disorder associated with deposits of an aberrant form of the protein ataxin-3 in the brain. The disease is also fatal and the most common hereditary motor neurodegenerative disease in many countries. Despite this, not much is known about MJD including the neurological basis of some of its symptoms, which cannot be linked to the brain damage found in patients.

But now, researchers in Portugal and France using a new animal model of the disease were able to show, for the first time, that MJD also affects the striatum, a brain area associated with movement and balance control.

These new findings, just published as advance online publication in the journal Human Molecular Genetics, finally clarify the cause of previously unexplained symptoms, such as muscle twisting and abrupt dance-like movements of the limbs. The research helps to understand better a still incurable pathology while also providing a new animal model to study the disease as well as potential treatments.

A gene called Diaphanous (or Dia) has just been uncovered as a major regulator during embryo formation. The research now published in the journal Development shows how Dia mutations in fruit flies embryos result in a serious of defects during morphogenesis (process by which cells differentiate into tissues and structures), including loss of adhesion, abnormal movements and even migration of cells from one tissue to another.

The discovery contributes to a better understanding of how tissue and organ formation is regulated and, consequently, to, one day, be able to intervene therapeutically. Furthermore, the loss of adhesion and abnormal mobility that occurs when Dia is mutated is very similar to what happens during cancer metastases formation, suggesting that this gene might also have a role in cancer.

Alzheimer's disease (AD) affects as much as 10% of the world population above 65 years of age but after years of research it is still not understood exactly how the disease appears and, even less, how to treat it.

But work just published in The EMBO Journal opens the door to new ways for disease intervention by showing that lipids found throughout the brain can dissolve the large insoluble protein plaques characteristic of the disease, releasing their soluble protofibrillar components, and also that it is the soluble components and not the insoluble plaques that provoke neural death.

These results identify a new target for disease intervention - the soluble protofibrillar components - but also alert for the fact that the insoluble plaques are, nevertheless, reservoirs of toxicity and so will need to be controlled too, while also identifying a totally new influence in the disease - the patients' lipid metabolism - and in this way add a few important pieces to the puzzle that is AD.

Embryonic stem cells (ESC) can both self-renew or differentiate into the many cells of the organism and it is crucial to understand the mechanism behind this capability if we want to use them in clinic.

Developmental regulator genes are responsible for the activation of many ESC differentiation-pathways and, as such, they are a fundamental key to understand them. And now, research about to be published in Nature Cell Biology, reveals that these genes -always believed to be inactive in ESC before differentiation start - when apparently silent (non-active) are in fact poised, already on the first steps of gene activation only unable to go further due to the presence of repressor molecules.

These results challenge the widespread paradigm that silent genes are hidden inside “balls” of compact DNA so to escape erroneous activation, opening the door to totally new approaches for stem cells’ gene manipulation. The work also reveals how ESC development is particularly plastic with the undifferentiated cells lurking in an active/inactive state, ready to differentiate very quickly in response to the environment. Finally, the research can also have implications for the creation of stem cells from already differentiate cells since these poised genes also seem to exist in the latter group.

Research about to published in the journal Molecular Psychiatry, resulting from a collaboration between scientists in Germany, Portugal and the UK, suggests that stress contribute directly to the development of Alzheimer’s disease (AD).

According to the results now published, stress induces the production of amyloid beta (Ab) peptide – the molecule associated with the neural plaques characteristic of the disease – and also makes neurons more vulnerable to Ab toxicity. Administration of glucocorticoids (GC) - the production of which is the first physiological response to stress – was shown to have the same effect, confirming the role of stress in AD. This last result is particularly important as GC are used to treat Alzheimer’s patients and according to this research instead of helping they might be, instead, contributing to the disease.

Research by Portuguese scientists - Ema Alves, Teresa Summavielle, Félix Carvalho and colleagues from the University of Porto and the Porto Polytechnic Institute - reveals how ecstasy can compromise the neurons in the brain by damaging their mitochondria – the structures responsible for energy production in the cell - causing the equivalent to a “power-cut” on the affected neurons. By showing how ecstasy can directly compromise such a crucial cellular process the research might help an eventual resolution of the two decade-long debate over whether or not ecstasy use is dangerous.

MDMA (the main component of ecstasy) leads to the production and accumulation of serotonin, a feel-good chemical, which is behind the pleasant effects of the drug. But scientists also know that ecstasy leads to excessive, and most probably toxic quantities of serotonin accumulating in the nerve endings. How this affected ecstasy users, however, was until now not known.

Scientists have discovered a key mechanism involved in the correct separation of chromosomes during the formation of eggs and sperm.

The research shows that BubR1 - a gene recently shown to affect cell division – maintains the cohesion of paired chromosomes (until their time to divide) during the production of reproductive cells. Because BubR1 mutations can result in cells with abnormal numbers of chromosomes, the research has potential implications for human disorders resulting from loss or gain of chromosomes such as Down Syndrome, a disease caused by an extra copy of chromosome 21.

Deletion of the BubR1 gene has been shown to disturb chromosome separation during meiosis - the process by which the reproductive cells, sperm and eggs, are formed - although how this happens is not clear.

Portuguese scientists have shown that in bacteria the rate of beneficial mutations – those that increase the capacity of an organism to survive in a particular environment – is much higher than previously thought.

In the case of Escherichia coli, the bacteria studied, it is as much as 1,000 times higher than previously believed. The study also suggests that many more genes mutate during bacteria adaptation to a new environment than previously thought. Both results - a much higher rate of advantageous mutations and a bigger number of genes mutating - have important implications for studies in antibiotic resistance and also how bacteria develop the capacity to attack their host.