Aurora magazine

In Parkinson's and in some forms of dementia, toxic aggregates that destroy neural circuits are created in the brain. Osaka University researchers are testing preventive gene therapy. The first studies concern only the guinea pigs; if all goes well, we will also move on to human experimentation. Although Parkinson's disease is widespread, the causes are still unclear.

Existing therapies are only symptomatic in nature and there is no real cure. Also for this reason, researchers are looking for preventive therapies that reduce the onset of the disease in people at risk. Japanese gene therapy affects a protein called alpha-synuclein, which aggregates into so-called Lewy bodies. According to the researchers, avoiding the formation of bodies could prevent or even reverse the disease. To test this theory, they tested it in vitro and on animal models.

The researchers created a section of genetic material that corresponds to the alpha-synuclein. At this point they stabilized the genetic fragments, modifying them so that they prevented the formation of the protein itself and therefore of the aggregates. To obtain the best possible result, they tested different variants of modified genetic fragments. In this way they have come to reduce protein levels by about 80% in vitro.

Later, scientists tested genetic fragments on animal models with Parkinson's. They came to the brain without major problems, without the need for chemicals to carry them. The treated mice showed the first improvements within 27 days of therapy.

Source: medicalnewstoday.com

Researchers at University College London have identified a mutation as old as fire. According to the discovery, this genetic variant could protect against hyperglycemia and diabetes, helping to prevent these diseases.

The discovery was made as scientists studied the CLTCL1 gene, which deals with removing excess sugar from the blood. Our body needs sugar to supply energy to the brain and the rest of the organs. When levels rise too much, however, pathologies such as type 2 diabetes can occur. In these cases, the sugar in circulation increases exponentially and the body is no longer able to remove it from the flow.

About 50% of the world population has a changed version of CLTCL1, which improves their performance. For these individuals, eliminating excess sugar is easier and therefore they are less at risk of diabetes. It may be that the mutation arose when humans began to cook. With the arrival of the kitchen, the sugars introduced into the blood have increased and it has become necessary to remove them.

The phenomenon could even have stimulated the development of the human brain. The oldest form of the gene carried glucose into the muscle and fat, so sugar levels remained high. The increase in sugar in the tissues of the organs could have stimulated the development of the brain, thanks to the greater supply of energy. Today, instead, there are other versions of the mutation, more in line with the large amounts of carbohydrates consumed today.

Source: focustech.it

Diabetes mellitus is a chronic disease with environmental and genetic causes. It is divided into two main forms:

• type 1 diabetes, in which the body does not produce insulin;
• type 2 diabetes, in which the body does not respond adequately to insulin and / or insulin levels are too low.

There are also other forms of diabetes, less common and linked to genetic abnormalities or pancreatic diseases. Furthermore, there is a form of diabetes that appears only during pregnancy, called gestational diabetes. The lack of insulin or the insulin resistance proper to diabetes prevent the body from regulating blood glucose levels, which are therefore always too high. In some cases, hyperglycemia does not give any symptoms or manifests itself too thinly.

The most common symptoms are: fatigue; continuous thirst; excessive diuresis; unexplained weight loss; increase in appetite; abdominal pains. Only in the most serious cases is mental confusion and loss of consciousness. Although it may go unnoticed in the early stages, diabetes leads to serious long-term consequences. Blood glucose always above the norm leads to macrovascular and microvascular complications. These result in neurological damage and in other organs.

Those who suffer from diabetes mellitus are at risk of contracting permanent damage to their kidneys, eyes and ears. Myocardial infarctions and strokes are also common. To date there is no definitive therapy for either type 1 or type 2. Patients can lead a normal life, provided however that they have constant subcutaneous injections and lead a correct lifestyle. Exercising and keeping your weight under control can also help you avoid the onset of diabetes, especially in those who are genetically predisposed.

Source: humanitas.it

Starting in the first trimester, the woman's body begins to produce a hormone called relaxin. The hormone helps the expectant mother to loosen muscles, joints and ligaments. In this way the body makes less effort to adapt to the growing child. A multidisciplinary team from the BIMDC (Department of Orthopedic Surgery at Beth Israel Deaconess Medical Center) studied the effects of relaxin on patients with arthrofibrosis.

The study starts from the observation of some pregnant patients. Some women suffering from the disease reported a reduction in pain both during gestation and immediately afterwards. The doctors looked for a possible cause of the phenomenon, focusing on the production of relaxin. At this point, they decided to check whether their suspicions were founded or not.

The doctors injected human relaxin into the joints of some guinea pigs. The animals suffered from a painful form of arthrofibrosis, which prevented them from using their shoulders. This is a particularly debilitating variant, common especially among middle-aged and diabetic women. The guinea pigs treated in this way have recovered much of their mobility; tissue samples showed improvement even at the cellular level. In a second study, the team analyzed relaxin-2. This version of the hormone inhibits the production of scar tissue by lowering the levels of collagen which, in excessive quantities, accelerates the phenomenon.

Injections made with relaxin-2 brought more significant and even more lasting improvements. One of the next steps will be to test the effects of the hormone on humans, but further tests will be needed first.

Source: bidmc.harvard.edu