Aurora magazine

In individuals with Smith-Lemli-Opitz syndrome, antioxidants help fight loss of vision. The discovery comes from the Jacobs School of Medicine and Biomedical Sciences. Researchers have added antioxidants to the standard therapy of some diseased guinea pigs. According to the first data, the addition would stop the retinal degeneration of the genetic disease.

Smith-Lemli-Opitz syndrome (SLO) is incapable of producing cholesterol. This causes a series of cognitive and physical abnormalities, including the progressive loss of sight. Researchers have found a way to prevent at least this last symptom. In animal models treated with the new approach, they avoided the appearance of retinal degeneration.

To date, SLO therapy provides for the treatment of individual symptoms. In addition to this, doctors are used to prescribe cholesterol supplements. In some cases, this is enough to prevent the disease from moving from the nervous system to the eyes, the heart and other organs. The results vary however from case to case. According to the authors of the study, the variant could be in the degree of oxidation of a specific molecule.

To test their hypothesis, the researchers blocked the oxidation of the molecule in some guinea pigs. In addition to standard therapies, they gave them antioxidants. Mice treated this way showed a marked improvement in retinal degeneration. The result is promising, but before going to humans, other studies will be needed.

Source: medicine.buffalo.edu

Researchers at the University of Warwick have developed tests for early diagnosis of autism. They started from the blood and urine samples of some patients and identified a series of possible markers. The test could help identify the most dubious cases of autism spectrum disorders right away.

Autism spectrum disorders and autism include a wide range of symptoms. These include problems of social interaction, compulsive behavior, hyperactivity, anxiety. The amount of possible symptoms makes it difficult in some cases to make a clear and safe diagnosis. For this reason, in the early stages the disorder can go almost unnoticed and remain without a diagnosis.

The authors of the study collaborated with researchers at the University of Bologna. They involved 38 children with autism spectrum disorders between 5 and 12 years. 31 children were used as a control group.

Scientists have found a link between autism spectrum disorders and damage in some plasma proteins. Examining the blood of some small patients, they identified high levels of oxidation markers of dityrosine (DT). They also found reaction products between sugars and proteins called advanced glycation end-products (AGE).

The causes of autism and autism spectrum disorders are still unclear. It is thought that genetics plays a decisive role in at least a third of cases. As for the others, it is suspected that the cause is the set of environmental factors and genetic mutations. According to the authors of the study, the anomalies identified by the test could be among the possible causes.

The next step will be to repeat the study with a larger group of children. Only in this way will it be possible to understand if the test is really effective for the early diagnosis of autism.

Source: theguardian.com

It is estimated that 1 in 6 Americans suffers from a mental illness. Nevertheless, the causes of some of these remain nebulous. A team from Virginia Commonwealth University analyzed post-mortem brains of people with mental illness. He thus identified a genetic activity common to five of the most common pathologies.

A 2013 study had already shown that some genetic variations are common to autism, schizophrenia, bipolar disorder, depression and attention disorder. However, the researchers failed to identify a link between specific genetic alterations and symptoms. The study in question focused instead on what happens at the molecular level inside the brain.

The researchers analyzed the brains of 700 subjects suffering from: autism, schizophrenia, bipolar disorder, depression, alcoholism. They compared the patterns of these brains with those of 293 healthy brains. For further control, they also controlled the gene expression of the cortical area in 197 patients with inflammatory bowel disease. In this way they excluded the involvement of processes linked to other diseases.

The analysis showed that certain psychiatric illnesses are much more similar than the symptoms would suggest. For example, the genomic data revealed a strong similarity between bipolar disorder and schizophrenia. On the other hand, there are no correlations between alcoholism and depression, theorized by other studies.

Furthermore, autism and schizophrenia would have in common an excessive expression of the wooing genes. In contrast, genes related to communication between neurons would be inactive in autism, schizophrenia and bipolar disorder.

According to the author of the 2013 study, Jordan Smoller, the next step should be to focus on the genetic expression of individual cells. Current studies focus on large areas of the brain. A more specific analysis would allow us to find the mechanical processes of certain diseases.

Source: sciencemag.org

A team of researchers at the Hebrew University of Jerusalem has developed a new diagnostic test. This is a blood test that can identify biomarkers related to various diseases. In this way it allows to assess the extent of the damage and to process the best treatment for each case.

The basic genetic heritage is always the same. Nevertheless, the processes that take place in the cells of individual tissues can modify it. The phenomenon is called methylation and determines the specificity of different tissues. Furthermore, the cells of a diseased tissue have a DNA that is partly different from those of a healthy tissue.

The test is based on a principle known for decades and also used in fetal DNA tests. Dead cells release DNA fragments into the blood. In theory, it should be possible to derive this DNA from a blood sample and determine its origin thanks to the methylation pattern. In practice, isolating and decrypting these cell fragments requires advanced technologies and knowledge.

Israeli researchers have developed a technique for isolating DNA fragments in the blood. By examining these fragments, they were able to determine the health conditions of patients suffering from various diseases. For example, they worked out a way to diagnose diabetes mellitus more precisely. In fact, the blood of those suffering is richer in fragments of pancreas cells than the average.

DNA fragment testing could be decisive for early diagnosis of cancers and degenerative diseases. By detecting too many cells of a certain type, doctors would be able to diagnose the disease before the onset of symptoms.

Source: huffingtonpost.it