Aurora magazine

The surfactant protein deficiency is a group of rare genetic diseases, affecting the genes that code for vitamins C, B and ABCA 3. When one of these three surfactant proteins is missing, breathing problems occur that can lead to death. In some cases, the child who suffers from the deficit does not even survive childbirth. Unfortunately, to date there are no conclusive therapies for any of the three forms.

The surfactant protein C deficiency is transmitted in an autosomal dominant manner, so only one mutated allele is sufficient. Among the three forms it is the least predictable: it occurs also in old age, with very different clinical pictures. In some patients it leads to death, in others it causes barely perceptible disorders that do not hinder everyday life. B deficiency is the rarest form and generally affects newborns. It manifests itself almost immediately and leads to increasing breathing difficulties. Children usually die in the first months of life, without doctors being able to do anything.

Finally, there is the deficiency of the ABCA3 surfactant protein, the relatively more frequent one. There are more than 100 mutations linked to the gene that codes for the protein. Transmission is autosomal recessive and occurs in both prenatal and later life. Usually the neonatal picture is more severe than the pediatric one, which tends to have a chronic course. For the time being, prenatal diagnosis is available only in well-defined cases. If there have been cases of these diseases in the family, then it is possible to detect any signs of the deficit. Otherwise, the picture tends to be too confusing to give reliable results, at least for the moment.

Source: osservatoriomalattierare.it

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

A study by the University of California San Diego School of Medicine confirms: new autism diagnoses are reliable. When performed by specialized professionals, they can detect the first symptoms when the child is only 14 months old.

This makes it possible to intervene earlier and confirms that autism arises in the prenatal age. According to several studies, autism develops in the first or second trimester of pregnancy. The first symptoms would also be visible within the first year of life, although often overlooked. Yet, an early diagnosis could improve treatments incisively. It would be enough to teach parents what the alarm bells are, so that they can turn to experts without wasting time.

The authors of this study tested this approach, especially to understand when it is possible to talk about a definitive diagnosis. They analyzed 1269 newborns, 441 with spectrum disorders and 828 no. The children had received the first diagnosis between 12 and 36 months of age, with different outcomes. Among 12-13 month olds there was a high rate of misdiagnosis, both in one sense and in another. Some apparently autistic children have turned out to be healthy and vice versa.

The diagnoses performed starting from the 14th month of life, on the other hand, turned out to be almost certain. This means that a professional can diagnose a case of autism in the first year of life or in any case soon after.

Source: ucsd.edu