Aurora magazine

Scientists at the University of Sussex have begun a major research project on Huntington's disease. The purpose is to develop a drug that will stop the loss of cognitive-related functions related to the disease.

Huntington's disease manifests itself mainly in middle-aged subjects. The most obvious symptom is the loss of control of the movements. Nonetheless, this only occurs 10 to 15 years after the actual onset of the disease, which causes a progressive loss of cognitive functions. There is no cure at the moment. There are also no effective drugs in the treatment of symptoms.

The Sussex University team is developing a targeted drug against the GABA A alpha 5 receptor. It is a brain protein that controls cognitive functions. The study moves in the wake of a previous research at the University of Dundee. This had shown the efficacy of experimental drug called α5IA. The drug, tested only on animal models, had restored some cognitive deficits in subjects with neurodegenerative diseases.

The developing drug is targeted against the early symptoms of the disease. The goal is to allow sick subjects to lead a near normal life, at least for a certain period of time. Cognitive deficits are the most debilitating symptoms of the disease. They make the sick unable to work and have devastating consequences on the subject and his family. With this search, things could change one day soon.

Source: news-medical.net

It is part of a new project for collecting genetic data linked to autism. The study involves 100 families with at least one autistic son. Family members are subjected to genetic testing to detect genetic mutations linked to autism. Research is conducted by Paola Visconti, head of the Autistic Spectrum Disorders Symposium at the Institute of Neurological Sciences in Bologna.

New technologies have simplified the diagnosis of autism. Genetic screening can help identify abnormalities that are common to 25% of cases of autism. It is also a fundamental tool for studying possible causes that can be detected in the remaining 75%. This second group of subjects are at the center of the study in question, which began in 2016 and is still in progress.

Researchers are assessing the blood samples of members of the 100 families involved. By analyzing DNA, they analyze the molecular karyotype, nuclear DNA and mitochondrial DNA. In this way they aim to identify genes related to the development of mimicry, motility and verbal production.
Despite efforts, researchers struggle to identify a specific biomarker for autism. Many therefore point to identifying the small anomalies that might be the cause of the disease. Parents' examination is therefore crucial, either to find inherent genetic factors, and to identify any environmental factors that may occur during pregnancy.

It's still early to talk about a prenatal screening test for autism. The study, however, seeks to better understand the root causes of the disease. Each discovery facilitates both the diagnosis and the search for new treatments.

Source: corriere.it

Attempts to eliminate the effects of early menopause continue. Researchers at Shanghai Jiao Tong University have returned fertility to some cavities. They have transplanted stem cells of a fertile goat into another affected by the premature decline of the ovaries. After 2 months, the mice of the mice thus treated gave birth to the small, healthy and free of genetic malformations. The next step will be to check whether such treatment is applicable to the human being.

Early menopause involves loss of normal ovarian function. The organs stop releasing the eggs before the age of 40, causing loss of fertility. The condition is rare and at the time incurable. It can be treated with hormones in order to avoid the most serious health consequences. However, many scientists are studying how to use stem cells to regenerate tissues. This way, it would be possible to restore lost fertility.

In the study in question, the researchers isolated and characterized germinal stem cells. The stems came from a transgenic cell, with fluorescent cells exposed to a blue laser. This allowed the researchers to analyze stem cells transplanted into the sterile ovaries of the subject.

Transplanted stem cells implanted in the tissue and differentiated into egg cells. The new oocytes took a few weeks to mature and allowed conception within 2 months. The whole process of development took place in a manner similar to the natural one.

Additional studies will be required to verify the safety of the treatment and its applicability to humans. However, if the results were positive again, there would be a new approach to combating a female infertility.

Source: cellpress.com

A more rigid climate reduces the risk of gestational diabetes. This is a study by St. Michael's Hospital and the Institute for Clinical Evaluative Sciences (ICES). Discovery could help both prevent gestational diabetes and diabetes in general. It throws up a new light on the link between increasing type 2 diabetes and global warming.

The researchers examined 555,911 pregnancies, carried by 396,828 women over the age of 12. All women lived in the Toronto area, but carried pregnancies at different times of the year. The authors of the study then measured mean temperatures within 30 days prior to screening for gestational diabetes.
The gestational diabetes rate was 4.6% in pregnancies at very low average temperatures, around -10 ° C. The rate rose to 7.7% among those exposed to temperatures around 24 ° C. The rate change Of risk also affected women who were pregnant the first time at a time and the second at another. According to the study, every 10 degrees Celsius the risk of gestational diabetes would rise by 6% -9%. The phenomenon could be related to the different types of fat developed by the human body.

New studies reveal that exposure to cold increases insulin sensitivity. The phenomenon activates the production of a protective fat, the brown adipose tissue. The difference in the type of fat developed, as well as the different insulin sensitivity, could strongly affect the onset of gestational diabetes.

Data analysis revealed that even the birthplace of the mother would affect the risk of diabetes. Women born in colder climates would be less exposed to the onset of the disease. Among those born cold and exposed to rigid climates during pregnancy, the gestational diabetes rate would be only 3.6%. Among those born in the cold and exposed to a warmer climate would be 6.3%. During pregnancy, it is advisable to undergo prenatal screening tests: exams such as fetal DNA test detect with a 99.9% confidence that chromosomal abnormalities in the fetus are present.

Source: stmichaelshospital.com