Aurora magazine

Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disease that prevents the formation of blood vessels. This leads to the appearance of sometimes lethal complications. Scientists at the Feinstein Institute for Medical Research may have revealed the molecular mechanisms of the disease. This allowed them to develop two possible drugs that could treat the most devastating complications. For the time being, tests have been limited to animal models.

The disease is characterized by the development of cells in blood vessels and hemorrhagic lesions. In the long run, it damages internal organs and reduces their functionality. It is known to be caused by the ALK1 gene, but the mechanism is still unclear. Dr. Marambaud and his colleagues started from these premises and developed a possible treatment. This is based on drugs already used for other diseases, which could inhibit the complications of hereditary haemorrhagic telangiectasia.

The researchers found that the mTOR and VEGFR2 pathways were ultra-activated in sick animal models. This was also evident in human patients. The drugs being studied interact with these, thus acting on part of the symptoms of the disease. They are in fact sirolisum and nintedanib, inhibitors of the two identified pathways. The first is used to open obstructed arteries and reduce the risk of rejection in transplants. The second is a drug used for the treatment of idiopathic pulmonary fibrosis.

Used together, the two drugs reduce most of the more serious symptoms of the disease. This at least in animal models: further studies will be needed to prove its efficacy in humans.

Source: medicalxpress.com

Researchers at Massachusetts General Hospital in Boston have isolated the anti-Alzheimer gene from the DNA of a Colombian woman. The mutation is called APOE3ch and contrasts the genetic predisposition to the disease, very common in Colombia. Thanks to this variant, the woman lived for over 30 years without showing any symptoms, despite the other variants.

In Colombia there are about 6,000 people with the E280A mutation, which increases the risk of getting Alzheimer's. The variant is also linked to an early form of the disease, which begins as early as 40 years. Yet the woman became ill only in old age. The researchers then searched for the causes of this phenomenon. Accumulations of beta-amyloid had formed in the woman's brain, which should have made her sick.

Nevertheless, his brain has resisted damage for decades. The merit was the APOE3ch mutation, which protected the neurons from the plaques that were supposed to destroy them. The variant has in fact prevented the formation of toxic neurofibrillary clusters, which are determinant in Alzheimer's disease. The discovery sheds new light on Alzheimer's research.

According to the authors of the study, the disease could be fought not by avoiding its appearance but by making the brain more resistant. Just like it happened to the woman in question. However, further studies will be needed to understand if it is really possible to apply this principle to the pharmacological field.

Source: repubblica.it

Researchers from the University of Manchester have discovered the possible cause of a serious genetic disease. It is actually a group of diseases that affect the nervous system, causing paraplegia and epilepsy. It is called hereditary spastic paraplegia and at the moment there is no cure. Thanks to the discoveries made, however, it will be easier to develop treatments.

The diseases that fall under the umbrella of hereditary spastic paraplegia were already known, at least in part. Over the years, researchers have identified several common genetic variants among patients. None of these, however, seemed to be the real cause of the disease, which therefore remained unknown.

A team of researchers from Manchester and Amsterdam worked to identify the real cause of hereditary spastic paraplegia. Thanks to studies on zebrafish and patient samples, they detected an anomaly in the PCYT2 gene. This could be the variant that determines the appearance and severity of the disease. Zebra fish with normal or slightly reduced PCYT2 activity had a good survival rate. In contrast, those with PCYT2 absent or inactive lived little.

The gene encodes an enzyme that produces the lipids that make up cellular membranes, especially those of neurons. When it is missing, the cells deteriorate more quickly and the symptoms described above occur.

Source: medicalxpress.com

In the past three decades, the twins have become a real cultural phenomenon. In fact, the country included the highest number of twins living in the world. The main cause of this boom was the use of fertility treatments, which began to spread in the 1980s. Today, the twins are back to decline.

What happened? In 1980, the rate of twin births was around 1.8%. It was then that fertility treatments became increasingly common. At that time, the treatments still included the implantation of more embryos per cycle. This increased the chances of having a twin birth, sometimes even tri-twin. As a result, the percentage of twins increased by up to 2% year on year. In 2014, it arrived at a rate of 33.9%, more than a third of the total parts. Between 2014 and 2018, we witnessed a new drop in twin births. In 2018, the United States had "only" 32.6% of twin births.

The decrease is particularly evident in more adult women: among mothers aged 30-34, the drop was 10%; for those over 35 years, by 23% and passes. Instead, it remained almost identical in women around the age of 20. According to the authors of the report, it is difficult to say with certainty what the causes of the decline are.

However, by concentrating in the most adult groups, it is likely to be linked to changes in assisted reproduction techniques. Today, in fact, it is rare for doctors to transfer more than one embryo at a time. Multiple pregnancies are less likely to succeed and are even more dangerous for future mothers.

Source: sciencealert.com