Aurora magazine

In the Netherlands, the maximum limit for genetic routine tests for Lynch syndrome is 50 years. According to Professor Nicoline Hoogerbrugge, it's a big mistake. By raising the age limit, in fact, it would be possible to identify many more people affected by the disease. This would allow for more time to diagnose colon cancer cases. About 5% of cases of colon cancer are linked to Lynch's syndrome, a genetic disorder.

It is estimated that only 20-30% of subjects with the disease have received a diagnosis. Many countries rely in particular on history and genetic testing. In the Netherlands, the latter are available for patients with colon cancer who are 50 years old. In this way, however, many cases remain unrecognized.
The researchers performed genetic testing on patients up to 70 years of age with colon cancer. Of the 87 at risk of Lynch's syndrome, only 35 had been judged fit for the tests. Genetic analyzes revealed that 13 patients were affected by the disease. Of these 11 were from families in which the syndrome had never been diagnosed; 8 were over 50 years old. If it had not been for research, their family members would never know that they were at risk.

Modifying access criteria for genetic testing could reduce 60% of the deaths associated with Lynch syndrome. In fact, the disease causes an increased risk of colon, stomach, brain and ovarian cancer. Identifying genetic predisposition to these diseases allows you to increase controls. In the best of cases it can even lead to disease prevention. Otherwise, it can diagnose the tumor even at the very first stages when it is still treatable.

Source: eshg.org

An Australian study has identified new genetic causes of endometriosis. The researchers confirmed 9 previously identified genomic regions and added 5 more to the list. The DNA sections found have a unique genetic code that explains many of the disease related issues.

Anomalies in the regions of the genome identified are related to a greater risk of endometriosis. Discovery is therefore the first step in identifying pathogenic genes. In the future, it may lead to the development of new genetic screening tests, useful for rapid and accurate diagnosis.

The researchers examined DNA samples of 17,045 Australian women with endometriosis. They compared them with 191,858 samples taken from a control group, made up of healthy women. The analysis did not reveal the causes of endometriosis, but they clarified some of the genetic causes. This will facilitate the understanding of the biology of the disease and its causes.

It is estimated that approximately 10% of Australian women suffer from endometriosis. The disease causes debilitating pain during the cycle and infertility. Often the diagnosis is difficult and this makes it more difficult to proceed with the appropriate treatments.

Source: theguardian.com

Huntington's disease is a hereditary neurodegenerative disease that affects about 5-10 / 100,000 individuals. Estimates are, however, partial, since diagnosis is often difficult and there are many unknowing males. In view of the variety of symptoms, only clinical observations are insufficient. The most effective diagnostic method also includes DNA testing and family history analysis.

The first symptoms of Huntington's disease appear generally between 35 and 50 years. Sometimes it also manifests itself before the age of 20. The disease causes progressive degeneration of neurons in some areas of the brain, leading to atrophy. The subject begins to manifest behavioral deficits, such as sudden mood changes, learning difficulties, depression, and anger rages. In some cases it changes calligraphy, has involuntary movements, and has disturbances in balance.
Depending on the person, the symptoms are also very different. In younger subjects, motor disorders begin to manifest and the symptoms progress rapidly. After 55 years, progression is slow and the symptoms tend to be confused with those of other pathologies.

Huntington's disease is linked to the mutation of the IT-15 gene in chromosome 4. The gene encodes the huntingtina protein, whose functions are still partially unknown. It is only known that it plays an important role in embryonic development and adult brain health. A subject with the mutated IT-15 gene has 50% of the chances of transmitting it to her children, who will develop the disease more or less prematurely.

Because it has a large number of symptoms, the diagnosis of the disease is mainly based on the genetic test. It's just a blood sampling of the subject to ascertain the presence of the mutated gene. It is a delicate decision, as it also involves close relatives as children and brothers. In fact, diagnosis occurs in adulthood, when many people have already had children who may have been transmitting the diseased gene.

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