Aurora magazine

Researchers at Baylor College of Medicine, Texas Children's Hospital and Rice University have discovered a new possible cause of female infertility. The fault would be a mutation of NLRP2 and NLRP7 genes. The mutations cause abnormal development of the placenta and embryo loss, even in the case of in vitro fertilization. The discovery will give an answer to many women who are unable to have a child and do not know why.

According to experts, in the case of 10-15% of infertile couples the cause is unknown. The same applies to 50% of women with recurrent spontaneous abortion. Mutations of genes NLRP7 NLRP2 and are harmless to the physical and mental development, so go unnoticed. Animal models, however, will reveal the role in the reproductive mechanism.

The researchers examined the Nlrp2 gene, the murine equivalent of NLRP2 and NLRP7 genes. The gene-free males showed no problem whatsoever. The females lacking the gene were normal to physical and cognitive point of view. The problems emerged only at the time of mating, who had three outcomes: some remained non-pregnant females; some were giving birth to stillborn pups and anomalies; some gave birth a few pups at a time. The small last group were often too large or too small compared to the average.

The methylation of certain genes occurs when the mother sends them to his son. In females devoid of Nlrp2 gene, the process is absent. It follows that missing part of the small chemical modification of DNA that is used to control the expression of embryonic genes. According to the researchers, the Nlrp2 proteins are largely external to the cell nuclei and are part of the subcortical mother complex. The complex is in turn part of the whole protein molecules that ovum and prepare it for fertilization.

When the Nlrp2 gene is missing or inactive, the subcortical complex is not formed and the methylation of the DNA fails fetus. This phenomenon makes it unlikely not only natural conception, but also in vitro fertilization. In these cases, in fact, the embryo does not develop and does not take root in the uterus. This could explain many of the failures that are difficult to understand procedure.

Source: bcm.edu

Now you can give new life to the spermatozoa, restoring the switch in male fertility. Researchers of the University of Qatar and Cardiff have reactivated the function of PLC-zeta protein found in sperm. Mutations in this protein can undermine the functioning of the male gametes and cause infertility. Injecting an additional dose fertilized ovum, however, it would be possible to work around this problem. The discovery could open new avenues in terms of diagnosis and treatment of some forms of male infertility.

other tests will be needed, but the study could soon find application in the clinical setting. It would be a valuable support to the current in vitro fertilization techniques. It would help in restoring the egg activation, at least in cases where the failure is due to the shortage of PLC-zeta. One way to give new hope to many couples who can not have children.

How exactly does the new technique? When the sperm penetrates the ovum, it injects an enzyme that causes the fluctuations in the amount of calcium. At this stage there is a woodpecker every two minutes and in two hours the process starts the egg development. The study shows that the PLC-zeta mutation blocks the oscillations of calcium levels. For this reason the activation remains outstanding and fertilization fails.
The next step is to see if the egg contains receptors that bind to PLC-zeta. If so, they may also be involved in fertilization failure. So they would be able to explain some cases of female infertility incomprehensible today.

Source: ansa.it

Researchers at the Salk Institute in La Jolla, California, have discovered how born the pace. They used the mini-synthetic brains, obtained from stem cells for research on neurodegenerative diseases. With this new information, they can better understand diseases like Parkinson's, autism and ALS, affecting the rhythmic movements.

It is still unclear how many millions of neural connections are able to absorb and process information. A human brain is too complex to study the operation as a whole. For this reason, scientists need of simplified models, which reproduce only certain features of a real brain. The mini organs are just that: are programmed embryonic stem cells to reproduce organ segments. Specifically, the researchers obtained the closed neural circuits and self-sufficient, to study how to generate a sense of rhythm in neurons.

The sense of rhythm is the innate sense which controls repetitive actions such as breathing and walking. Some people have a more developed sense of rhythm, which allows them to stand out in music or dance. Even in the most uncoordinated, however, there is a mechanism that controls breathing, the ability to walk and chew. All of these are in fact repetitive actions, which depend on the sending of rhythmic signals from neurons. It is a poorly understood mechanism that when it stops working causes diseases such as Parkinson's.

Californians neuroscientists have created artificial neural circuits from nerve cells in the spinal cord. Each of these circuits contained about 50,000 neurons and nerve cells with excitatory or inhibitory activity. Changing the proportions of each type, the researchers slowed or accelerated the pace of the signals sent from the circuits. According to scientists the brain regulates so the different types of rhythmic activity, creating complex circuits but still flexible. If you could master this same strategy, it could create new treatments against movement disorders.

Source: ansa.it

A team from the University of North Carolina has developed a method to diagnose autism in the first year of life. The researchers predicted the onset of the disease in high-risk 8 out of 10 children, all under the age of 2 years. The first results are exceptional, but further studies will be needed to confirm the value.

It is estimated that autism is diagnosed in 1 child out of 160 in the world. Most at risk are children with a close relative suffering from autism. It is estimated that a child with an autistic brother will have greater probability of 1 to 5, in turn, be autistic. Despite the increased attention placed on high-risk subjects, seldom can be diagnosed before 2 years of the child's life. It is only at this age that any behavioral abnormalities begin to become apparent. Moreover, when there is neither a cause unique and specific genetic biomarkers for the disorder. The study aims to anticipate the diagnosis, so as to put in place immediately the most effective treatments.

Joseph Piven, who heads the team, studied since the 90 MRIs of the brains of high-risk children. Children with autism have a larger brain than the average, but it is not known when begin the abnormal growth. The researchers then periodically scanned the brains of 106 children at high risk and 42 low-risk children. To compare the two groups of images, they used a machine learning algorithm. The method allowed them to diagnose autism in 8 cases out of 10.
Resonances showed abnormalities in the cortical surface of the brain of autistic children. These are extras anomalies between 6 and 12 months of age, before the onset of symptoms. The discovery could have important clinical implications, even if you need more confirmations. We should also see if the new diagnostic method is applicable only to those at high risk or to all children.

Source: wired.it