Aurora magazine

Nonaka distal myopathy - also called GNE myopathy - is a rare genetic disorder widespread especially in Japan. Causes progressive loss of muscle strength and manifests itself around the age of 30. For the moment there are no definitive treatments.

The first symptom consists in weakness in the hands and feet, which spreads to the calves and arms. As the disease progresses, it also affects the rest of the legs and shoulders. The cardiac, pharyngeal and ocular muscles that continue to function are usually spared. Respiratory muscles are involved only in the later stages of the disease.

The disease is caused by an anomaly in the GNE gene, which codes for the enzyme responsible for the production of sialic acid. The mutation causes a decrease in enzyme levels by 30% -60%. The result is a reduction of the sialylation of glycoproteins and glycolipids, with consequent reduction of proteins. The muscles therefore remain without the bricks needed to develop and function properly.

The diagnosis of Nonaka distal myopathy starts from the observation of the "falling foot". Then the doctors check for a possible history in the family, which could give rise to a genetic predisposition. In this case, we proceed with a muscle biopsy, which serves to identify changes in the muscle fibers. In fact, the absence of proteins causes entire empty areas. Genetic testing is usually used to confirm the diagnosis.

The disease forces patients on a wheelchair within 15 to 20 years. To date there are no effective therapies and symptoms can only be treated. Sialic acid supplements can help and some genetic therapies are being studied.

Source: orpha.net

Nutrition in pregnancy is essential for the health of the unborn child: it is now well known. According to two preliminary studies presented at the American Heart Association's Scientific Sessions 2019, it could also determine the cardiovascular health of the unborn child. Further proof of how the maternal lifestyle has long-term consequences.

The first research comes from Northwestern University in Chicago. Scholars have followed 877 couples of mothers and children from 9 centers in 6 countries. The researchers assessed women's health during pregnancy, using 5 of the 7 metrics recommended by the American Heart Association's Life's Simple 7 score. For assessments they took into account: weight, use of tobacco, blood sugar levels, cholesterol, blood pressure. After 10-14 years, they analyzed the health status of their children using the same metrics.

Women with the best cardiovascular health in pregnancy were also those with healthier children. Maternal cardiovascular conditions may affect the health status of the fetus and the child. However, researchers are not sure that there is a relationship of cause and effect between the two.

The second study focused instead on nutrition and the relationship with the future health of the fetus. From what has emerged, women who ate so much junk food in the second trimester have had children more prone to obesity and cardiovascular problems. Many of these children were already overweight at the age of 4.

Source: heart.org

Women with problems of liver failure in pregnancy could increase the risk of obesity for their children. This is what a study presented during The Society for Endocrinology Annual Conference states. According to the researchers, the maternal condition would influence the metabolism of the fetus by altering its bacterial flora.

Pregnancy intrahepatic cholestasis is one of the most common liver problems during the nine months. The condition reduces the release of bile from the liver; bile transfers into the blood and damages liver function. All this results in pain, risk of miscarriage and preterm birth. Furthermore, children exposed to these problems are more likely to become obese. Dr. Caroline Ovadia of King's College in London analyzed the issue. The aim was to verify the possible correlation between bacterial flora, metabolism and childhood obesity.

The scientists followed a group of pregnant guinea pigs with liver failure. After giving birth, they examined the composition of the bacterial flora of the young. They have thus noticed alterations in the colonies of bacteria, as well as liver problems even in small ones. The young were fed with foods high in fat, similar to those found in the First World. These seem to have worsened their conditions further. Eating healthily is essential, always. From what emerged, it would be even more important if the mother had liver problems during gestation. The children could in fact have an already altered bacterial flora; a diet too fat would only make the situation worse.

Source: endocrinology.org

Genetic tests to predict cancer risk and to develop ad hoc treatments are increasing. According to one study, however, the future lies in the double screening of DNA and RNA. This would make it possible to obtain more reliable and precise data, which can also be used to assess the presence or absence of a genetic predisposition.

The risk of getting sick depends on a large number of factors related to genetics, environment and lifestyle. The lifestyle is surely the one on which it is easier to intervene, but also the genetics has a great weight. Certain variants predispose the body to the appearance of tumors. By identifying them, it is easier to intervene on the other factors and identify a possible tumor in the very early stages.

Standard tests focus on mutations in DNA. However, a new approach is taking off, which also takes into account mutations at the RNA level. This allows to multiply the eventual tests of a genetic predisposition, reducing the cases of false negatives.

The first data on the subject were presented at the National Society of Genetic Counselors Annual Conference in Salt Lake City. The researchers tested the methodology on 2,500 patients. The test identified about 6.9% more mutations, 19% for specific genes such as BRCAs. This means more precise results, although more difficult to read.

Source: mddionline.com