Aurora magazine

Researchers at the RIKEN Center for Brain Science have identified a new genetic mutation linked to bipolar disorder. The discovery will help develop more effective treatments and better understand the disease.

Previous research had identified two factors related to bipolar disorder: abnormalities in serotonin levels and mitochondrial dysfunction. Almost all those who suffer from the disease, in fact, also present mitochondrial damage and vice versa. However, the studies found no link between serotonin levels and mitochondrial dysfunction.

According to the Japanese study, mitochondrial dysfunction may alter the activity of serotonin-producing neurons. The cause lies in a mutation of the ANT1 gene, which causes a chronic calcium deficiency. Mice lacking the gene also showed a large number of mutations in serotonin levels.

In the guinea pigs examined, the non-functioning of the ANT1 gene caused a peak in serotonin levels. The increase in serotoninergic activity would have worsened mitochondrial dysfunction, giving rise to a vicious circle. Furthermore, the deterioration of the neurons producing serotonin would have been more pronounced in the dorsal area of ​​the brain. Such a situation has also been observed in Parkinson's patients.

Mutation is not a true cause of bipolar disorder, but acts concurrently with other factors. Where present along with other genetic mutations, the likelihood of the disease is increased. This means that a drug that affects mitochondrial dysfunction could reduce the incidence of the disease, even if it does not cure it in its entirety.

Source: eurekalert.org

A new genomic test predicts the best treatment against breast cancer. In particular, it indicates whether chemotherapy is necessary or not. This is what emerges from the TaylorX study, presented at the World Congress of Medical Oncology (Asco) in Chicago.

The results refer to the most widespread type of breast cancer, the one responsive to hormones and which does not involve lymph nodes. According to the study, chemotherapy would be superfluous for 70% of patients affected by this type. In the case of early diagnosis, only hormone therapy would suffice for them. How to distinguish them from the other 30%, however? Researchers at the Albert Einstein Cancer Center in New York have developed a test for this.

The one presented in Chicago is the second clinical trial on the test. The test examines the activity of specific genes within tumor tissues. In this way it helps to understand the biology of the tumor, how resistant it is and how likely a relapse is. This is done by examining a sample taken from the tumor. Based on the results, assign a score ranging from 0 to 100 and indicating the probability of relapse within 10 years.

If the score is 0 to 10, the risk of recurrence is low. This means that chemotherapy is less necessary and that you can focus on other therapies. If the score goes from 26 to 100, it is better to carry out chemotherapy. In the first clinical trial, scores between 11 to 25 were uncertain. The second trial shed light on the best approach even in these cases.

The researchers tested the procedure on over 10,000 women with breast cancer. Of these, about 6,000 had scored between 11 and 25, so uncertain. Half of them have performed chemotherapy and hormone therapy; the other half performed only hormone therapy. After the treatment, the doctors followed them for about 7 years. In the long run, the two types of treatment have had similar results.

According to the data collected, chemotherapy did not increase the chances of survival of these women. Metastasis and relapse rates were equivalent. In the case of results between 11 and 25 in breast cancers responsive to hormones diagnosed early, therefore, hormone therapy is sufficient. There seems to be one exception: in patients under 50, double therapy may still be advisable.

Source: repubblica.it

A blood sample may be enough to predict the date of delivery and if the baby will be premature. In Italy alone, 32,000 premature babies are born each year, 6.7% of newborns. In other countries, the situation is even worse: according to the WHO, 1 child in 10 in the world is born before the deadline. Preterm birth is also the leading cause of neonatal death. A team led by Stanford University decided to fight the phenomenon with a genetic test.

Nowadays, the method par excellence for estimating gestational age is ultrasound. If in our country it is now taken for granted, it is not so in the poorest areas of the world. In some countries, ultrasound is too expensive and therefore not always available. The test developed by the team is cheaper than ultrasound, so much more palatable for developing countries.

The blood test is able to assess the risk of premature birth in 75-80% of cases. As? In a previous study, Stanford researchers had shown that measuring the amount of circulating RNA helps to estimate the gestational age of the fetus. Starting from this discovery, they examined the genetic material of a group of pregnant women.

The first analyzes conducted on 21 women allowed to identify 9 types of circulating RNA coming from the placenta. In this way they managed to elaborate a statistical model, able to predict the time of delivery. The collected data provide information regarding the development of the fetus, with a precision difficult to obtain with other tools.

The second phase of the tests focused on the premature parts. The researchers involved 38 high-risk pregnant women, one third of whom then gave birth ahead of time. Doctors took a blood sample during the second and third quarters. Thanks to the test, they identified the genetic material of the mother and in particular the anomalies related to seven genes. The analyzes predicted the successive premature births with a degree of accuracy of about 75%. Nevertheless, the actual role of the genes involved is still unclear.

Source: repubblica.it

Holoprosencephaly is a genetic disease affecting about 1 live birth every 10,000 worldwide. It affects the brain and presents 3 classical forms, with a gravity gradually greater. All three manifestations start from a defect in the separation of the cerebral hemispheres, but there is a strong clinical variability.

The three forms are:

• alobar holoprosencephaly. It is the most severe form of holoprosencephaly: the separation is completely absent and the thalami are fused. As a result the skull is smaller than average and roundish. Prenatal diagnosis is possible from the first trimester;
• Semilobar holoprosencephaly. The hemispheres are fused in the anterior area;
• lobar oloprosencephaly. This is the most difficult form to diagnose. The separation is almost complete, so the disease can go unnoticed during ultrasound.

In most cases, a correlation between disease severity and facial abnormalities is evident. The most severe form is often accompanied by craniofacial malformations. In the slightest form, however, the malformations are almost absent, even if there is a certain degree of mental retardation. Common symptoms are also motor deficit, food problems, epilepsy and endocrine disorders. Severe forms are often fatal due to brain malformations and associated defects.

Prenatal diagnosis usually occurs through ultrasound and imaging diagnostics. Current genetic tests are able to identify about 25% of the mutations related to the disease. The latter are especially recommended for women who have more than one risk factor, such as suspected familiarity and diabetes.
The prognosis of oloprosencephaly is variable and depends largely on the form of the disease and related complications.

Source: orpha.net