Aurora magazine

Dr. Minna Sucksdorff and Professor Andre Sourander of the University of Turku studied the effects of vitamin D deficiencies in pregnancy. Thanks to the data of over 2 million pregnancies, they have discovered a correlation between lack of vitamin D and attention deficit (ADHD). In fact, children of women with low levels of this vitamin are more likely to have children with these problems.

The team started with data from the Finnish Maternity Cohort (FMC). The registry includes over 2 million serum samples taken during all three quarters, genotype analysis, relevant prenatal factors. Among the latter, there are also the levels of the different vitamins in the mother's blood.

For the purpose of the study, the scientists focused on around 2000 children born between 1998 and 1999. Of these, 1,067 suffer from attention deficits and the others acted as a control group. Using the above records, the team analyzed maternal vitamin D levels throughout gestation. In particular, he compared them with those recommended in Finland, or 10 micrograms per day throughout the gestation. The final picture proved disheartening.

Despite the recommendations, in Finland many women suffer from vitamin D deficiency. According to the study, this translates into an increased risk of attention deficit disorder for the child. Pregnant women should therefore also pay attention to this vitamin, deficient especially in areas with little sun and in women who work indoors.

Source: utu.fi/en

A study led by Taylor Pini, of the Colorado Center for Reproductive Medicine, analyzed the effects of obesity on male fertility. Analyzes revealed differences in the structure of 27 proteins contained in the sperm. This was despite clinical trials not showing any problems. This means that not only does weight also play a role in male fertility, but that traditional clinical analyzes may be insufficient.

The researchers started from the samples of 10 men, 5 obese and 5 normal weight. All volunteers had average sperm levels, motile and with normal morphology. Andrological analyzes had not indicated any critical issues affecting fertility. More in-depth analyzes were needed to identify important biochemical changes.

The researchers identified 2,034 sperm proteins. In the samples of obese subjects, 24 showed levels of much lower and 3 levels of much higher than the average. The anomalies were all related to proteins responsible for controlling oxidative stress, inflammation, DNA damage. In a nutshell, the spermatozoa of obese men were more prone to oxidative stress and inflammation.

According to the authors of the study, there may be a link between obesity and spermatogenesis, although not entirely clear. Too much above average weight could have serious consequences on sperm quality, not all visible with normal tests. Weight is therefore a sensitive issue not only for women who want children, but also for men.

Source: medscape.com

A new genetic editing technique has stopped the progression of a serious genetic disease in mice. The disease is the deficiency of ornithine transcarbamylase, a disease caused by hundreds of mutations in the same gene. Thanks to CRISPR, Penn Medicine scientists have developed a possible effective therapy on all mutations.

The authors of the study had already made an attempt at genetic therapy, but had managed to correct only one mutation. The approach had proven effective in newborn guinea pigs, but not in adults. This time, they developed a technique that inserts a mini-gene into the genome. The gene contains the correct information on how to code for the enzyme, in order to overwrite the wrong ones.

The new approach is effective on both puppies and adults. Above all, it is more effective than traditional cut and paste. In contrast to this, in fact, it manages to counteract a large number of mutations together. In this way, the organism resumes producing the enzyme and supporting it with the features that, without editing, would remain silent. The approach has proven effective on guinea pigs; scientists are working on the application on humans.

The CRISPR variant uses a virus that acts as a vector. Inside there is a small portion of gene that is added to the material already present. Formally speaking, the technique does not correct the mutation; rather, it overwrites it with more relevant genetic material. The genes that prevent the production of the ornithine transcarbamylase enzyme remain, but there are others that promote it.

Source: advances.sciencemag.org

Ornithine transcarbamylase deficiency or OTCD is a genetic disorder affecting the metabolic cycle of the urethra. The deficiency of the enzyme prevents ammonia detoxification, with consequences for the whole organism. In severe cases, it also causes neurological complications.

The disease is estimated to affect around 1 new born out of 56,000, mostly boys. In most cases, the first symptoms occur within days of birth. However, there are also more rare forms of late onset.

The first symptoms are difficulty sucking milk and lethargy, which often turns into a real coma. In some cases, babies exhibit epileptic seizures and hyperventilation. If no immediate action is taken, children can develop an encephalopathy and die in a few days. The milder form occurs instead later, usually at the beginning of weaning.

In adults, the occurrence of ornithine transcarbamylase deficiency is linked to environmental stress. Sometimes it occurs after childbirth or after surgery, or in conjunction with a protein-rich diet. In these cases, the symptoms are nausea, vomiting, delirium. If left untreated, hyperammonaemic coma and neurological complications occur, which can result in cognitive impairment.

If the patient goes into a hyperammonaemic coma, the first thing to do is to reduce the ammonia levels. In the long term, you need to reduce your protein intake and remove nitrogen with special drugs. In severe cases, a liver transplant is needed. Those suffering from the mild form of deficit can live an almost normal life. Unfortunately, the most common and serious form has an almost always poor prognosis.

For diagnosis, the levels of ammonia and other substances in the plasma are analyzed. Later, molecular analyzes are used to confirm the diagnosis. If there have been full-blown cases in the family, prenatal diagnosis can be used.

Source: orpha.net