Aurora magazine

Researchers at the National Institutes of Health (NIH) have demonstrated the efficacy of an experimental drug against Niemann-Pick type C1. The compound activates the AMPK enzyme and activates the cell cleansing mechanisms. This reduces cholesterol and fat accumulation in the brain and liver.
Work could lead to a new generation of Niemann-Pick type C1, Parkinson and Alzheimer treatments. All of these neurodegenerative diseases have in common the malfunction of cellular recycling mechanisms. Neurons accumulate bad substances that affect their functions.

The experimental drug 2-hydroxypropyl-β-cyclodextrin is in Phase 3 of the clinical trial for the treatment of the disease. Preclinical studies had already shown its effectiveness, but operation was unclear. The researchers then created a more powerful version, methyl-β-cyclodextrin.

The team tested methyl-β-cyclodextrin on cells taken from patients with Niemann-Pick. The drug has been linked to the AMPK enzyme and has activated it. The result was a collapse of accumulated cholesterol levels. By blocking AMPK's activity, however, levels have remained unchanged. Researchers also found other effective compounds that could lead to new drugs.

The tests have clarified how methyl-β-cyclodextrin acts. The next step will be to check whether 2-hydroxypropyl-β-cyclodextrin works in a similar way.

Source: nih.gov

A non-invasive prenatal test measures the risk of spontaneous abortion. The mechanism is the same behind prenatal diagnosis of Down syndrome and other diseases. Just a drop of blood to detect the chromosomal abnormalities of the fetus. This way you can understand what is the risk of complications, all before the 10th week of gestation.

Chromosomal abnormalities are present in 1 live-born baby on 1000. The most common ones are identifiable by special non-invasive prenatal tests that work with only one drop of blood. However, scientists are developing new tests to diagnose rare hereditary diseases and other abnormalities.

It is estimated that only 50% of the fetuses with rare chromosomal anomalies survive. Locating them in the early stages of gestation would measure the risk of spontaneous abortion. An Australian team then developed a prenatal test for this purpose. The researchers identified 90 rare chromosome abnormalities, of which 70% were associated with severe complications and abortion.

If the test is positive, doctors may advise you to proceed with more invasive tests. This would allow families to choose how to deal with the risk and to prepare for a possible loss of pregnancy.

Source: newscientist.com

Francesco Papaleo's team of the Italian Institute of Technology (IIT) has identified the bases of long-term memory. The researchers found the mechanisms behind multitasking and memory. The discovery will find application in personalized treatment of schizophrenia and other psychiatric disorders.

25% of the population has a genetic variation, which helps long-term memory or multitasking. According to the study, every person can be proficient in just one of two things. Or you have a good long-term memory, or you can do many things together. Both skills can not live in the same subject for genetic reasons.

The COMT gene regulates the dopaminergic system, responsible for controlling voluntary movements, cognitive and motivational functions. Research has also revealed its role in the endocannabinoid system, which controls memory and learning. It also emerged that 25% of the population has a mutated version of the gene.

The mutation can determine the hyperactivity of COMT. Subjects with the hyperactive gene have a better memory, but are less skilled in multitasking. Those without the mutation, on the other hand, have a worse long-term memory and greater multitasking capabilities.

Source: ansa.it

Congenital myotonic dystrophy is a rare genetic disorder that manifests itself since birth. It causes strong muscular weakness and difficulty breathing, requiring resuscitation at birth. If the newborn survives, the disease leads to delays in psychomotor development and alterations in cognitive development.

It is easy to confuse congenital myotonic dystrophy with other muscular illnesses. Diagnosis requires neurological examination, followed by electromyography and genetic testing. With electromyography, the physician evaluates the muscular electrical activity so as to detect possible myotonic discharges as a symptom of the disease. Subsequently, a genetic test is carried out, which quantifies triplet CTGs in the DMPK gene.

In healthy people, triplets are 5-34. Those with 37-50 triplets are healthy carriers of the disease and can transmit it to their children. Above 50 triplets the disease begins to manifest, with increasingly severe symptoms as repetitions increase. Some subjects even have more than 1000 repetitions.

For the time being, prenatal diagnosis is possible through the biorhythm of corial or amniocentesis. If the test is successful, it is advisable to request the support of a specialized center. This way the doctors can intervene right from the moment of delivery. Medical support is also essential if the mother is suffering from the disease. A weak uterine muscle weakness makes delivery more difficult and exposes the risk of hemorrhage.