Aurora magazine

Women with high glucose levels in pregnancy are more likely to get type 2 diabetes in later years. Although the levels are not such as to be able to talk about gestational diabetes. This is revealed by a study published in the journal of the American Medical Association. The researchers followed the future mothers throughout the gestation and 10-14 years after delivery.

Previous studies focused on possible complications for the child. This, however, analyzes the effects of glucose on mothers, even those that do not formally suffer from diabetes. It thus emerged that levels slightly higher than recommended are enough to increase the risk of type 2 diabetes in mothers and obesity in children.

The researchers analyzed 4697 mothers, dividing them based on glucose levels during pregnancy. None of the women had had gestational diabetes problems. Among those with very high levels, after 10 years about 11% suffered from type 2 diabetes and 42% of prediabetes. Among those with normal levels, however, the percentages were 2% for diabetes and 18% for prediabetes.

The study also examined the children of women, 4832 in all. Babies born to mothers with high glucose levels were much more at risk of obesity. 19% of them were obese, compared to 10% of children born to mothers with normal levels. This means that it is not necessary to get gestational diabetes to have problems for years to come.

Despite the data are significant, they have limits. Information is lacking about the lifestyle of mothers and children, which may have affected. Furthermore, there is no data concerning the body mass index before pregnancy.

Source: niddk.nih.gov

Researchers at the New York Genome Center (NYGC) and Columbia University have discovered why some people with a genetic mutation get sick and others do not. Behind the phenomenon there would be a molecular mechanism, which influences the appearance and severity of the symptoms.

The variable penetrance of certain diseases has been a puzzle for years. Even in the case of diseases with a strong genetic base, it happens that individuals with the same anomalies have different symptoms. The reason has always been unclear. Because? According to the researchers, the genetic variants that regulate gene activation also influence the way they occur.

Many previous studies had focused only on coding variants or only those in gene regulation. The team of Dr. Lappalainen instead examined both types of variants, treating them as one group. To this end, the researchers analyzed the data obtained from the Genotype-Tissue Expression (GTEx) project.

At first, they evaluated the interactions between regulatory and coding variants in healthy people. They have discovered a particular kind of combinations that protect against the penetrance of harmful variants. It is likely that it is a defense system developed through natural selection, to combat genetic diseases.

Later, researchers repeated analyzes of a group of patients with genetic diseases. In particular, they examined the DNA of individuals with autism and tumors and their families. They identified the presence of the combinations mentioned above and, thanks to these data, predicted the penetrance of diseases.

Subsequent tests with CRISPR / Cas9 confirmed the mechanism identified with the previous analyzes. The discovery could improve the diagnosis of many genetic diseases. Thanks to this combination of variants, it may be possible to predict if a certain anomaly will degenerate or remain silent.

Source: eurekalert.org

Genes useful for protein coding are less than expected: 20% of the human genome would be "useless". This portion would consist of sequences fallen into disuse or without meaning. The discovery comes from the Spanish National Cancer Research Center (CNIO) and could have a major practical impact. In fact, it will influence research on genetic diseases and tumors, also influencing the therapies.

In 2003, the human DNA map was completed. The map included 20,000 coding genes, that is, involved in the production of proteins. The CNIO decided to verify the reliability of this number. For this purpose he compared the data contained in the three most important databases in the world: GENCODE / Ensembl, RefSeq and UniProtKB.

Put together the three databases contain all 22,210 coded genes, but only 19,446 are present in all three. The researchers then examined the remaining 2,764, comparing the data with experimental evidence and annotations from other researchers. It turned out that they were almost all non-coding or pseudogenes. At this point they also examined the other genes, finding that 1,470 considered coding may not be.

The genome would have 20% more non-coding genes than what was expected in 2003. For the time being, researchers have analyzed in detail only part of the genome. To date, the "downgraded" genes have been 300, some of which are also very studied. There are about 100 publications concerning these genes, which give them certainty that they are coding. A clue to how important this discovery could be for medical research on genetic diseases and cancers.

Source: ansa.it

Researchers Jay Shendure and Lea Starita have analyzed nearly 4,000 variants associated with breast and ovarian cancers. To do this they used the information obtained from the genetic tests of patients who died of cancer. The results will improve the early detection of tumors and will help to develop new treatments.

The study focused on variants of BRCA genes, notoriously related to ovarian and breast cancer. According to doctors, some variants increase the risk and danger of tumors. Others would be harmless. Most, however, have unknown consequences and leave patients in doubt. For this reason, the researchers examined the effects of these latter variants to understand their role.

There are about 2500 variants of the BRCA1 gene whose consequences we do not know. The two geneticists then analyzed the tumor cells of some dead patients. The patients all showed abnormal functioning of the BRCA1 protein responsible for DNA repair. They used the CRISPRCas9 genetic editing technique to modify the gene and analyzed the consequences.

The genetic screening carried out have covered every possible variation within the gene. For each variation, the researchers analyzed cell behavior and their survival. In cases where clinical data were available regarding the variation, they combined them with the results of their tests.

Ideally, the collected data should be combined with other genetic information. Not always, however, there is enough data about a certain genetic variant. In any case, the study has clarified a large number of previously dubious variants.

Source: nature.com