Aurora magazine

A study reveals a new genetic variation due to motor neuron disease. The discovery comes from a group of researchers from the Sheffield Institute for Translational Neuroscience (SITraN) and the NIHR Sheffield Biomedical Research Center (BRC).

The work could help find new ways to treat the disease, which currently affects around 5,000 people in the UK alone. Motor neuron disease is a set of neurodegenerative diseases that affect only motor neurons. People who suffer from it have a bad connection between brain and muscle, caused by the malfunction of this type of neuron. About 10% of cases are hereditary, while the remaining 90% is linked to sporadic genetic variations.

The study in question identified an unknown variation, which opens up a series of possible new therapeutic avenues. The researchers sequenced the DNA of two related patients, both affected by a familiar form of motor neuron disease. The analyzes revealed a mutation linked to an enzyme called GLT8D1.

Later, they searched for variation in another 103 patients. Of these, 5 presented the mutation. The discovery revealed a new genetic subtype of motor neuron disease. Thanks to it, it will be easier to understand how the disease develops and to seek new therapies.

Source: medicalxpress.com

A Stanford team is developing a study dedicated to the diagnosis of metabolic diseases. Over the next few years, researchers will study the genetic profile of thousands of patients treated at Lucile Packard Children’s Hospital Stanford and Stanford Children’s Health clinics.

The goal is to create a metabolic profile for each patient, so as to identify problems in time. Scientists will collect blood and urine samples from patients. Starting from these, they will examine about 800 lipids and 700 non-lipids. If all goes as planned, the team will complete 1,000 metabolic profiles by the end of 2019. To date, the clinical routine involves the measurement of a fraction of metabolites present in the blood.

The most famous are glucose and cholesterol, important but not sufficient to have a complete clinical picture. Actual measurements provide information on specific pathologies. The purpose of this study is to shift attention to a far greater number of diseases. Furthermore, researchers hope to better understand the genetic origins of these diseases. The profiling of healthy patients at the moment can help identify problems before they occur.

In addition, it could help to understand why some newborns are more at risk of metabolic diseases, such as premature babies. In this way it will be easier to take measures in time, developing new therapies. The ultimate goal of researchers is to offer genetic screening to all newborns at risk. Once a possible genetic anomaly linked to metabolic problems is identified, it will be possible to work to keep them healthy rather than heal them once they are adults.

Source: med.stanford.edu

Hormonal contraceptives are the most effective contraceptive method ever. Nevertheless, some women still remain pregnant. Some relegate these cases to mistakes made by women themselves. A study by the University of Colorado reveals, however, that this is not always the case: sometimes it is the fault of the genes.

The research team analyzed the DNA of 350 healthy women around the age of 22. All of them had a hormonal contraceptive implant for 12-36 months. 5% of them had a gene called CYP3A7 * 1C, which usually turns off shortly before birth. In some of them the gene was still active and continued to produce the CYP3A7 enzyme even in adulthood. The CYP3A7 enzyme interferes with the action of hormonal contraceptives, increasing the risk of pregnancy.

The problem occurs above all in those who use contraceptives with low hormonal content, such as modern birth control pills. Difficult as it is, it is therefore possible for these women to become pregnant while taking hormonal contraceptives correctly. The discovery also sheds light on how genetic variations can affect the effectiveness of some drugs. Further studies will be needed in this regard, but it is a first step in creating contraceptive tools almost tailored to the individual.

This will make it easier to avoid unwanted pregnancies related to the failure of the contraceptive pill.

Source: cuanschutz.edu

Gaining weight during pregnancy is completely normal. Women who are already very overweight, however, may wonder if this affects gestation. According to many studies the answer is yes. In the case of severe overweight or obesity, one wonders if losing weight during pregnancy is safe.

Rather than going on a diet, doctors advise taking the right nutrients and doing physical activity. In theory, in fact, we should lose weight before the gestation begins. Slimming diets over the course of nine months may be harmful to the child. It is true however that, in the case of obesity, the woman should not gain further weight. The fetus can in fact use body fat already present as an energy reserve.

When a woman does not gain weight from pregnancy, she is actually burning fat reserves. At the end of pregnancy, therefore, it should weigh less than at the beginning. This, however, without leading to a real diet, with weight loss during pregnancy. It is important that the future mother eats in a healthy and regular manner. At most, very overweight women may not need to increase their daily calorie intake.

A healthy diet and exercise are the best way to avoid gaining weight in pregnancy, in the case of obesity. Everything must always be done on the advice of your doctor, who will have to give instructions on the best activities for the future mother. Except in special cases, 30 minutes a day of walking will be just fine.

Source: medicalnewstoday.com