Aurora magazine

A new gene therapy has given exceptional results on 9 children with myotubular myopathy (MTM). The disease causes extreme muscle weakness, which occurs immediately after birth. All the small patients have recovered part of the muscular functions, so that 4 of them can breathe on their own.

The trial involved 9 children from 8 months to 6 years of age, all suffering from X-linked myotubular myopathy. The doctors gave them an intravenous infusion, containing billions of viruses rendered harmless. The viruses injected a corrected version of the MTM1 gene into the patients' muscle cells, eliminating the abnormal one. In this way they restored myotubularin production.

The therapy caused serious side effects in 3 patients, including cardiac inflammation. The doctors were able to tackle all these problems, which then came back. At 48 weeks after therapy, the muscle cells of the first 6 patients were producing about 85% of normal myotubularin levels. The muscle fibers had grown and 4 of them were able to sit alone; 3 even managed to walk with a little help. While continuing to receive artificial nutrition, several of them also began to eat normal food.

Some patients were able to articulate a few words. Doctors gave a higher dose of gene therapy to 3 patients. In these cases, the scientists detected the same improvements but many weeks in advance. Encouraging results, but to be confirmed with further studies and trials.

Source: sciencemag.org

We are used to talking about the female biological clock, when we approach the topic of fertility. Still, the paternal age could be just as important according to a study led by Dr. Gloria Bachman.

The doctor's team examined data from over 40 years of research on male fertility. From what has emerged, men should consider having children or freezing their sperm within the age of 35. As they age they can still have children, but there is a decline in fertility and increases the risk of transmitting genetic defects. In fact, testosterone decreases with age and this affects the quantity and quality of spermatozoa.

The average age of aspiring parents is increasing: in recent years, there has been 10% more men who have had children after age 40. Although undervalued, this is a problem that affects the health of newborns in so many ways. According to some studies, it could even increase the risk of tumors, psychiatric illnesses and cognitive disorders.

The authors of the study recommend men over 35 to treat fertility like women of the same age. If they plan to have children far ahead in life, it would be better if they kept their sperm a few years in advance. Otherwise, make sure to perform prenatal tests to check the health of the fetus.

Source: thenational.ae

The height is hereditary, in large part. Studies on twins and families have shown that our centimeters depend 80% on genes. What genes, though? This is still unclear and for good reason, apparently: the genetic factors responsible could be tens or more. Research has identified hundreds of genetic variants that could be linked to height. There is a problem: each gene only minimally influences this trait.

This means that an individual's height does not depend on one or two genes, but on the coordinated work of hundreds of genetic variants. There remains a pending issue: the set of variants still fails to explain the data collected in family studies. The phenomenon is called "missing inheritance" and is especially relevant in research on genetic diseases. According to some geneticists, it is possible that our understanding of genes has partly failed. In short, we would be missing something.

This is why a study at King's College in London investigated the issue. According to the study, pieces that fall into the missing inheritance are detectable in rare genetic variants. Most studies are based on the 500,000 common genetic variants, detected by the sequencing of a few hundred people. On the one hand these huge databases simplify the search; on the other, they may have pushed us to neglect some slightly more hidden variations.

For the study in question, the researchers sequenced the entire genome of 21,620 people. This allowed them to detect even the less common variants, some of which were also linked to the height. A result that is partly reassuring for genetics, but which shows how complex the issue is.

Source: lescienze.it

Scientists at the Children's Medical Center Research Institute have developed a new approach to genetic testing. They combined genetic sequencing and chemical analysis. In this way they can identify the mutated gene in less time.

The goal is to develop better and personalized treatments based on the single genetic mutation. Genetic diseases are the cause of 25% of cases of infant hospitalization. Most of these genetic diseases are metabolic in nature. The body of these children cannot metabolize sugar proteins, fats and other substances. This causes serious imbalances in the body, which cause disability and in some cases death.

The only way to avoid at least some of the danger is to diagnose the disease in time. Prenatal or neonatal diagnosis is available for some disorders. In these cases, doctors prescribe specific diets to contain the damage. Most of the time, however, the diagnosis comes when the first symptoms occur. Indeed, it happens that years pass before the patient receives the correct diagnosis and can be treated as appropriate. Years during which the disease continues to develop and do damage.

The study authors identified the gene responsible for a rare metabolic disease. To do this, they used genetic sequencing and analyzed the metabolites in the blood. They then compared the data with those of healthy patients, in order to identify metabolites with abnormal levels. Later, they combined the metabolic alterations with the mutated genes. In this way they found the genes linked to the anomalies.

Source: medicalxpress.com