Aurora magazine

Some of the genes used to assess the risk of familial hypercholesterolemia could change based on place of origin. UCL's team of Dr. Karoline Kuchenbaecker has discovered that the current tests do not apply to people from Uganda. This means that other genetic analyzes and therapies may not be completely effective for non-European people.

Genetic studies have helped us to better understand how the human being works, allowing us to develop new therapies. Unfortunately, most of them are conducted almost exclusively on European people or descendants of Europeans. There is therefore a large analytical hole, which affects all non-European populations and the people who descend from them. Dr. Kuchenbaecker started from this premise for her new study.

The group of researchers analyzed how some known genetic variants influence blood fat levels. In particular, it focused on groups of people from the United Kingdom, Greece, China, Japan and Uganda. The results confirmed part of the concerns. Results among European and Asian subjects were similar: approximately three-quarters of the genetic markers applied to all groups.

In the case of people originating from Uganda, however, only 10% of the markers proved to be valid in the diagnosis of high levels of triglycerides. It is therefore likely that the same cardiovascular risks relate to different markers. According to the scientists, the causes of these differences could be in the environment. Faced with an almost identical genetic heritage, the various human groups live in diametrically opposite conditions.

Source: ucl.ac.uk

A woman's bone marrow could determine her chances of conceiving and carrying on a gestation. This was stated by a study by Yale University. When the oocyte is fertilized, some marrow stem cells move into the uterus. Here they help to create the environment suitable for implantation and embryo development. As a result, a bone marrow analysis could reveal any obstacles to the process.

Previous studies have already shown the involvement of bone marrow in the uterus. The stem cells from here in fact influence the uterus in the different phases of the cycle. However, it was unclear whether and how these cells influence the organ even during gestation.

The study in question aimed precisely at answering this question. The researchers analyzed two animal models with a Hoxa11 gene defect, which causes problems in the endometrium. After bone marrow transplantation of healthy guinea pigs, endometrial conditions have improved. This has increased the chances of conceiving and completing a pregnancy.

The approach proved effective even on a guinea pig with two defective copies of the gene, completely infertile. To make the transplant possible, the researchers used a particular chemotherapy drug that does not affect the ovaries. Now all that remains is to expand the study and, later, to understand how to translate what was discovered in human beings.

Source: news.yale.edu

Research published in the journal Pediatric and Perinatal Epidemiology examines the effects of paracetamol in pregnancy. The researchers analyzed the behavior, memory and cognitive abilities of a group of children between 6 months and 17 years old. From what has emerged, exposure to the drug would be related to behavioral problems.

The researchers started from questionnaires and school information gathered from a study of the 1990s by Bristol's Children. The data covered approximately 14,000 children, 43% of whom were exposed to paracetamol during pregnancy. Their mothers had in fact declared that they had "sometimes" the drug, especially to alleviate minor joint pains during the nine months.

Paracetamol is considered a safe drug to take during pregnancy. Nevertheless, scientists have highlighted a link between her intake during pregnancy and some developmental problems. Children exposed to paracetamol are more prone to hyperactivity and attention problems.

The rate of behavioral problems is also higher than the average. Yet this imbalance seems to disappear in the first years of elementary school. The study does not give clear and unambiguous answers, but raises a problem: is paracetamol really safe? Professor Jean Golding, head of the study, fears that the drug may have many more negative effects than is currently known. At present there is no evidence of a causal link between drug intake and behavioral problems. It is however worth paying attention to what is taken during pregnancy.

Source: bristol.ac.uk

Men positive for BRCA gene variants are twice as likely to get prostate cancer. This was revealed by a study by the Institute of Cancer Research, London. The researchers examined the DNA of nearly 1,400 volunteers, of which 902 were carriers of the variants. BRCA2 gene abnormalities are associated with a higher risk of breast and ovarian cancer. Port women of the variant have between 50% and 85% suffering from breast cancer by age 70. However, this study focuses on the consequences of the gene in men, much less taken into consideration. Not always the normal tests for prostate cancer are enough: several studies prove it.

The analysis of PSA antigen alone, specifically linked to this pathology, is not applicable to the general population. On the other hand, the tests in question showed that BRCA2 carriers were more prone to severe cancers. The researchers then decided to investigate the issue.

The study includes genetic data of 902 carriers and 497 non-BRCA2 carriers. The researchers analyzed how many of the analyzed subjects were affected or would suffer from prostate cancer. About 40% of the non-gene carriers suffered from clinically relevant diseases, compared to 77% in the other group. Furthermore, the latter were twice as likely to develop cancer.

Source: telegraph.co.uk