Aurora magazine

Researchers at the University of Missouri, in collaboration with the Johns Hopkins School of Medicine and Duke University, have corrected in mice the genetic mutation causing Duchenne muscular dystrophy. This is a further step towards effective treatment also in human beings.

Duchenne muscular dystrophy is caused by the production of dystrophin. Protein is essential for the development and survival of muscle cells. When it is missing, all the muscles of the body gradually lose their functionality. This applies to both motor and respiratory and cardiac muscles. To avoid all this, the genetic mutation that prevents the production of the protein should be corrected.

The study authors thought of the most efficient way to correct mutated cells. By changing the genes of muscle stem cells, all new cells would be healthy. In this way it would be possible to replace sick muscle cells with as many healthy ones. To test this hypothesis, the researchers tested it on some guinea pigs suffering from dystrophy. First, the researchers treated a healthy muscle using Crispr.

They then transplanted it into an immunodeficient mouse and let it regenerate from its stem cells. In this way they obtained many modified muscle stem cells, proving the feasibility of the first phase. After the first phase, the researchers tested the therapy on sick guinea pigs. They modified the sick stem cells and let the muscles regenerate. The test was successful and the muscles of the guinea pigs began to produce dystrophin. If all this could be reproduced in humans, the dystrophy could be permanently erased.

Source: wired.it

A study led by Yale researchers examines changes in the fertility of different generations of women. They focused on women of the X generation - born between 1965 and 1982 - comparing them with their Baby Boomer counterparts. They also took into consideration the internal differences between women of the same generation, but with a different cultural level.

The researchers compared cohorts of women born at different times and with different cultural levels. The results showed that the total fertility rate has been increasing among Generation X women.

The most substantial improvements were recorded among women of higher culture, who studied at least in college. Among the women who studied at college, the percentage of those who had 2 children and chose to have a third was higher. Indeed, it can be said that having three children is the norm among high-education US women belonging to Generation X.

According to the discovery, the fertility rate may have little to do with the age of the first child. In fact, women who study longer tend to have their first child later. Nevertheless, they shorten the waiting time between one pregnancy and another, managing to have more children. This did not happen among Baby Boomer women, who have had fewer children than their more modern counterparts.

Source: yale.edu

Researchers at Boston Children's Hospital have developed a custom-made drug for a six-year-old girl, Mila Makovec. The child suffers from a form of Batten disease, which has limited mobility and reduced vision. Mila's symptoms were caused by a mutation in the CLN7 gene.

Unlike the usual, the mutation affected only one of the two alleles; the other was affected by an unknown mutation. To treat this form of the disease, doctors had to find this other mutation and understand the mechanism. For this purpose, they performed a total DNA sequencing. This allowed them to identify an anomaly of the mRNA, which modified the way the gene is expressed.

To resolve both abnormalities, doctors developed new forms of antisense oligonucleotide or ASO. The new drugs had the same skeleton as that used for spinal muscular atrophy.

The scientists tested them in vitro on the patient's cells, choosing the one that worked best. At this point they also tested it on guinea pigs and, once the safety of the drug was proven, they used it on Mila. Before the test, Mila had 15-30 seizures per day, each lasting an average of 1-2 minutes. With therapy, the frequency dropped to 0-20 attacks per day lasting less than a minute.

Source: medpagetoday.com

A team from the Barcelona Institute for Global Health (ISGlobal) studied the link between seafood and level of attention. From what has emerged, eating lots of seafood in the first months of gestation could increase the level of attention of children.

The researchers studied 1,641 couples of mothers and children. The mothers filled out numerous questionnaires during gestation, answering over a hundred questions related to nutrition. Among these, there were several concerning fish and seafood. Once the children were born, they also answered questions about feeding their children at 1, 5 and 8 years of age. Finally, the scientists assessed the level of attention of children at 8 years. The data shows a correlation between seafood consumption and attention span.

The most significant effects appear to be connected to consumption in the first quarter of gestation. Eating them later in gestation would have less effects, as well as making them eat the child in his first five years of life. Furthermore, it would be good to vary and not just focus on fat-rich fish. The merit of these benefits would be found in the formation processes of neurons. In fact, seafood contains a series of substances essential for development, including the famous omega-3. Consuming seafood in large quantities would therefore provide a surplus of these substances, stimulating fetal brain development.

Source: isglobal.org