Depression linked to gut bacteria and blood molecules

Article 1: The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2

Scientists created a test, called the Risk of Ovarian Cancer Algorithm (ROCA), that measures the risk of ovarian cancer for women with pathogenic germline BRCA1/2 variants. ROCA has been shown to work well in real-life situations, and it can help doctors keep track of women who are at high risk of getting this type of cancer but don’t want to have surgery to remove their ovaries. The test looks at a tumour biomarker called CA125 in the blood, which can change when a woman has ovarian cancer. The researchers found that the test worked just as well in real life as it did in their experiments. ROCA could help women who have a higher chance of getting ovarian cancer to stay healthy. Read the full article .

In summary: Effective surveillance test for ovarian cancer

Article 2: Patient attitudes and preferences about expanded noninvasive prenatal testing

Researchers surveyed 200 pregnant women to explore their attitudes towards non-invasive prenatal testing (NIPT) using cell-free DNA to detect fetal chromosomal anomalies. The study found that 88% of participants wanted as much fetal health-related information as possible, over 80% sought fetal genetic insights with infant health effects, and 71% were interested in receiving information on common trisomy through NIPT. The authors suggest that with appropriate pre-test counselling, pregnant patients may choose NIPT for a broader range of conditions, but patients should also be made aware of the limitations and potential for discordant results. Read the full article .

In summary: High interest in non-invasive prenatal testing among pregnant women

Article 3: Interplay of metabolome and gut microbiome in individuals with major depressive disorder vs control individuals

Scientists looked at how the bacteria in the gut and molecules in the blood may affect people who have a mental health problem called major depressive disorder (MDD). They studied the blood of many people with and without MDD and found new molecules that were linked to the condition. They also looked at the bacteria in people’s guts and how they affect the molecules in the blood. Using genetic information from thousands of people, they found that certain fatty molecules and proteins could be involved in the development of MDD. The study showed that the way our body uses energy may be different in people with MDD and that the bacteria in our gut may affect how our body processes fats. Read the full article .

In summary: Depression linked to gut bacteria and blood molecules

Article 4: ARRDC5 expression is conserved in mammalian testes and required for normal sperm morphogenesis

Researchers have identified a gene called ARRDC5, which is expressed during spermatogenesis and could be targeted to develop a non-hormonal, reversible form of male contraception. The researchers used transcriptomics and single-cell RNA sequencing to identify the gene’s expression pattern in the testicular tissue of mice, pigs, and cattle. They found that the ARRDC5 gene is responsible for regulating mammalian spermatogenesis, and mice missing the gene had sperm with malformations and reduced motility. The researchers suggest that targeting ARRDC5 with small-molecule inhibitors could be a promising avenue for developing male contraceptives. Read the full article .

In summary: Spermatogenesis gene with potential contraceptive utility

New in Genetics issue April 2023. Every month, Medicover Genetics curates the most important peer-reviewed scientific publications related to genetics.