Aurora magazine

A Massachusetts General Hospital team (MGH) identified a deficiency in neural stem cells of patients with Huntington's disease. The discovery has allowed us to elaborate a new possible treatment.

The NRF2 transcription factor has the task of protecting cells from external damage. It activates the expression of antioxidant, anti-inflammatory and detoxifying genes. It also acts on all the genes that stimulate the elimination of damaged proteins. Researchers have found that NRF2 is, however, not present in neural stem cells of Huntington's sufferers.

A 2016 study identified a group of components that activates NRF2, called MIND4. MIND4 also inhibits the SIRT2 regulator enzyme, a strategy that has also produced excellent results against Parkinson's. The purpose now is to examine whether MIND4 activates NRF2 only in the guinea pigs or even in humans. If that were the case, it would have a great therapeutic potential.

The researchers also tested MIND4-17, a more powerful version of MIND4. In animal models, the compound increases the expression of antioxidant proteins. It also has the same process that activates NRF2 in response to oxidative stress. In this way, the transcription factor is not degraded by the disease and can activate antioxidant and protective genes.

NRF2 activation also produces anti-inflammatory effects. In particular, it acts on microglia and macrophage cells that penetrate the brain in the last stages of Huntington's disease. This reduces the levels of inflammation and also reduces the effects of the disease.

In Huntington's disease, the HTT gene has a repeated section repeatedly. The human neural stem cells of those suffering from the disease therefore present this problem. The more the repetitions are, the less NRF2 activation affects the symptoms. In cell lines where repetitions were reduced to non-pathological levels, however, activation was more effective. Same thing for non-neuronal cells, on which the effects of the compound were not influenced by the number of repetitions.
Further studies will be needed to test the efficacy of the compound first on animal models, then on the human being. If the tests were successful, there would be a possible treatment for Huntington's disease, Parkinson's and SLA.

Source: medicalxpress.com

In the Netherlands, the maximum limit for genetic routine tests for Lynch syndrome is 50 years. According to Professor Nicoline Hoogerbrugge, it's a big mistake. By raising the age limit, in fact, it would be possible to identify many more people affected by the disease. This would allow for more time to diagnose colon cancer cases. About 5% of cases of colon cancer are linked to Lynch's syndrome, a genetic disorder.

It is estimated that only 20-30% of subjects with the disease have received a diagnosis. Many countries rely in particular on history and genetic testing. In the Netherlands, the latter are available for patients with colon cancer who are 50 years old. In this way, however, many cases remain unrecognized.
The researchers performed genetic testing on patients up to 70 years of age with colon cancer. Of the 87 at risk of Lynch's syndrome, only 35 had been judged fit for the tests. Genetic analyzes revealed that 13 patients were affected by the disease. Of these 11 were from families in which the syndrome had never been diagnosed; 8 were over 50 years old. If it had not been for research, their family members would never know that they were at risk.

Modifying access criteria for genetic testing could reduce 60% of the deaths associated with Lynch syndrome. In fact, the disease causes an increased risk of colon, stomach, brain and ovarian cancer. Identifying genetic predisposition to these diseases allows you to increase controls. In the best of cases it can even lead to disease prevention. Otherwise, it can diagnose the tumor even at the very first stages when it is still treatable.

Source: eshg.org

Assisted fertilization techniques have helped thousands of couples conceive. Prenatal screening tests, on the other hand, provide information on the health of the fetus. Nonetheless, according to some researches, assisted fertilization would be detrimental to the child's cognitive abilities. A study by Dr Melissa Mills's team at Oxford University denies this theory.

The researchers started from the Millennium Cohort Study data. The study follows today more than 18,500 children born in the United Kingdom between 2000 and 2001. The researchers submitted the children to cognitive tests between 3 and 11 years. Among these were 125 children born from in vitro fertilization and 61 by intracytoplasmic sperm injection.

Children between 3 and 5 years of age from assisted fecundation received higher marks in cognitive tests. Vows normalized around the age of 11, still remaining slightly above the average of peers. This means that conception does not affect the child's basic intellectual level.

What has more to do with intellectual abilities is the familiar background. Those who use IVF often have a high level of education and are more mature than those who naturally conceive. This also affects the education of the child. Probably this explains the most positive results of child children of assisted fecundation.

Source: medicaldaily.com

A study at the University of Zurich shows how stressful pregnancy also harms the fetus. Long periods of maternal stress change the metabolism in the placenta, affecting the growth of the fetus. The phenomenon increases the risk that the child develops cognitive and behavioral deficits by growing.

When it is under pressure, the human body releases hormones that serve to handle the situation. One of these is the release hormone of corticotropin, which causes an increase in cortisol stress hormone. In pregnancy, these hormones partially overcome the placental barrier and reach the fetus.

Increasing stress hormones accelerates fetal development. The purpose is to allow the baby to be born first and to give him more chance of survival, even if premature. A useful mechanism in nature, however, does little apply to modern life and has many negative consequences. Rapid growth hinders the proper development of organs. How long does stress need to last, though?

The researchers examined 34 healthy pregnant women, subjected to prenatal screening tests for diagnostic purposes. The situation may be stressful for many pregnant women, thus increasing cortisol secretion. Scientists compared the levels of hormone in maternal saliva and those in amniotic fluid. They found that there was no connection.

To examine the effects of prolonged stress, the team monitored a group of women throughout pregnancy. The puppies completed questionnaires about their psycho-physical condition. The researchers compared the results of the questionnaires, the corticotropin release hormone levels in the mother and those in the fetus. They have thus shown a correlation between the data.

The implications of stress on the fetus are still unclear, even though different negative effects are known. It is therefore important that future mothers receive constant collaboration and support, even by a specialist, if needed.

Source: uzh.ch