Aurora magazine

A team of Chinese researchers used CRISPR to modify a human embryo. The article appeared in the journal Molecular Therapy. The authors describe the modalities used to eliminate a genetic defect from the embryo. According to reports, the technique used would be much more effective than those used in similar experiments. In addition, the researchers acted on an embryo obtained with IVF and potentially implantable in utero.

The first case of modified human embryo dates back to three years ago. Chinese researchers used a technique with a very low success rate. Out of 54 embryos, only 4 survived, all bearing a healthy version of the gene. Since then, researchers have created and used new variants of CRISPR.

The old genetic editing technique cut entire areas of DNA and replaced them with a healthy version. Instead, the new method exchanges DNA letters and corrects errors in a less invasive way. Chinese scientists used the latter to correct a mutation of Marfan syndrome. Those who suffer have an A instead of a G in the FBN1 gene: they have entered the correct letter.

The procedure was applied on 18 embryos. In 2 of these, the procedure changed other letters beyond those provided. Therefore, unforeseen genetic modifications have been created. According to the researchers, such errors are easy to identify and therefore there would be no risks.

In contrast to other times, the researchers modified embryos usable for IVF. If they wanted to, they could implant them in the womb of some women and let them develop. Before actually doing so, however, further studies will be necessary, so as to identify any negative consequences of the procedure.

Source: phys.org

A group of researchers has discovered a link between the ANO7 gene and the degree of aggression of prostate cancer. Who presents certain genetic mutations, would be more at risk of developing a violent form of the disease. The carriers of the modified gene would also have less chance of survival than the average.

To date there are no ways to diagnose the violent forms of prostate cancer in the early stages. The researchers then studied the DNA of 1,700 patients, comparing it with that of as many healthy men. They focused on mutations in the ANO7 gene, already linked to this type of tumor. They have thus identified genetic mutations related to aggressive forms of cancer.

According to the researchers, a genetic test for the ANO7 gene could identify patients at risk in the early stages. This would allow you to act immediately with more effective and better targeted treatments. However, the link between the gene and the disease is still unclear. Scientists have not yet been able to understand what the biological functions of ANO7 are. Further studies could perhaps lead to the development of treatments that act on these functions.

The team of Professor Johanna Schleutker has identified a mutation in particular. Carriers are more likely to get sick and it is easier than a severe form of cancer. Another mutation is instead linked to a lower probability of survival. The data could however be partial.

Although the study sample was very large, it included only Caucasian individuals. To validate the discovery, studies will be needed involving subjects from other parts of the world.

Source: utu.fi/en

The embryonic development of the uterus involves the fusion of the two Mullerian ducts. The fabric between the two is reabsorbed, so as to obtain a single organ. Sometimes, tissue melting or reabsorption is not successful. In these cases, a series of congenital anomalies develop, including the arcuate uterus. How does this affect the chances of carrying out a pregnancy?

Uterine abnormalities can have negative consequences on gestation. A recent analysis focused on the arcuate uterus in relation to in vitro fertilization techniques. The researchers analyzed the success rates of fertilization techniques in women with this anomaly. To this end, they evaluated the uterine cavity of a group of women who were undergoing IVF.

Among the women involved, 76 had an arcuate womb and 354 were part of the control group. The first suffered a total of 83 attempts at installations, compared to 378 in the second group. The success rate of the implant was 63.7% among women with an arched uterus and 65.4% among others. Also the rate of live births was similar and that of spontaneous abortion (4.8% in the first group, 4.3% in the second). It therefore appears that the arcuate uterus does not significantly affect the results of in vitro fertilization.

The major criticality of the study concerns the criteria for the diagnosis of the arcuate uterus. To date there is no single criterion, so that women with very different uteri are put in the same group. The variation rate can go from 3% up to 38%.

Source: medscape.com

A Kaiser Permanente study analyzed the use of cannabis among future mothers. The researchers found that it is more common among women with severe problems of nausea being more prone. The rate of consumption is instead lower among women who do not suffer from morning sickness.

The study explores earlier work, which showed an increase in cannabis use among pregnant women. None of these, however, focused on the "why" of this increase. The reasons would be in morning sickness. According to the researchers, it is likely that many women use the substance as self-medication.

The researchers involved over 220,000 pregnant women, collecting data on substance use and possible discomforts. This is the largest study done to date on the subject. The team of Dr. Kelly Young-Wolff found that women with severe nausea had 4 times more chance of consuming cannabis. The rate was 2 times higher among those complaining of mild nausea.

The percentage of prenatal marijuana use among women was 5.3%. 2.3% of the over 220,000 women complained of severe nausea. 11.3% of these used cannabis to alleviate the inconveniences. On the other hand, women with mild problems of nausea were 15.3%, 8.4% of whom consumed marijuana during pregnancy. Among women without problems of nausea, however, consumption was 4.5%.

Doctors do not recommend cannabis use during pregnancy. The substance may have consequences on the neural development of the fetus and birth weight. However, further studies will also be needed on these data.

Source: medicalxpress.com