Aurora magazine

Alpha-1 antitrypsin deficiency is a genetic disorder linked to reduced levels of alpha-1 antitrypsin protein. The protein is synthesized by the liver and serves to inhibit some enzymes that, if present in excess, damage the lung tissues. This compromises respiratory function and causes emphysema to occur.

The severity of the damage and the age of the onset of symptoms may change from subject to subject. It happens that the disease remains silent in people who do not smoke, while it manifests faster in smokers. In some cases, the deficit also affects the liver and causes jaundice. It can even happen in the first days or months of life. However, these infantile manifestations are not always related to those that appear in adulthood.

Alpha-1-antitrypsin deficiency is an autosomal recessive genetic disease. The variant is found in a chromosome 14 gene. In order for the disease to manifest itself, the anomaly from both parents must be inherited. If one of the two parents is affected by the disease or knows that it is a healthy carrier of variants at risk, it is possible to perform a prenatal diagnosis test.

For the time being, therapy for alpha-1-antitrypsin deficiency is mostly symptomatic. Recently, a substitution therapy recommended by doctors has also appeared. This involves the administration of purified human alpha-1-antitrypsin protein. Nonetheless, it is still an experimental therapy and raises some doubts. At the moment there are no rigorous clinical studies that prove its effectiveness.

In patients with severe hepatic impairment, liver transplantation is possible. Following the operation, the disease is treated in a definitive manner.

Source: telethon.it

Coronary artery disease is the leading cause of death among people with type 2 diabetes. Physicians can assess the extent of the risk fairly precisely if the person is suffering from diabetes. Weight, glucose level and family history are all very clear indicators. According to a study by the Joslin Diabetes Center, genetic tests can make a further contribution.

Until recently, it was a common belief that genetic testing did little to predict coronary artery disease. The study in question has shown that analyzing genetic factors can help to get more precise diagnoses.

The team of Dr. Alessandro Doria has analyzed the genes related to coronary artery present throughout the population. Previously it was believed that the risk of developing the disease derived from 160 gene locations. The researchers analyzed the behavior of these variants in people with type 2 diabetes. The results were positive and significantly improved predictive accuracy.

According to the study, the addition of genetic analysis to clinical criteria allows anticipation of predictions. As a result, it is possible to take action much earlier, so as to reduce the risk of the disease manifesting itself. Nevertheless, the genetic test proved to be of little use in determining the best type of treatment.

In a previous study, Dr. Doria and his colleagues had identified two genes useful for deciding which treatments were best. The next step will therefore be to focus on these two genes, in order to deepen the question.

Source: eurekalert.org

A study by the Wellcome Sanger Institute reveals that the genetic causes behind certain neuro-behavioral disorders are far more complex than previously thought. Researchers have found that some rare diseases are linked to a combination of common genetic variants, rather than just a few rare variants. This makes diagnosis and prediction much more complicated. On the other hand, the study will help researchers better understand obscure diseases today.

Before the study, it was thought that certain behavioral diseases were caused only by rare genetic variants. Still, there were unclear details. In the presence of the same rare genetic variant, some patients had very severe symptoms and some did not. In some cases, the symptoms were completely different.

It was thought that the common genetic variants acted only on equally common disorders: diabetes, cardiovascular disease and so on. Instead, they appear to play an important role in the development of rare neuro-behavioral disorders. Their presence would act on rare genetic variants, increasing the risk of developing diseases such as schizophrenia and autism.

Researchers studied the genome of nearly 7,000 children with a wide range of neuro-behavioral disorders. They compared data with those of a control group. In particular, they tested 4 million common genetic variations. In this way they discovered that these variants also played a role in the development of rare diseases.

The study shows that it is not enough just a gene to cause certain diseases: their development is much more complex. Once this is discovered, the next step will be to understand how to use the discovery to diagnose and combat these diseases.

Source: sanger.ac.uk

Since the 1980s, there has been an increase in twin pregnancies. While before there were about 20 cases for every 1000 newborns, in the years '10 of 2000 it went to 35 per 1000. The trend has raised some concerns, given that these gestations have on average more complications. We also ask ourselves what the causes are. Only for the increase in the number of couples using IVF?

Dr Eli Adashi and Roee Gutman of Brown University's Warren Alpert Medical School analyzed data on twin pregnancies. The aim was to determine how in vitro fertilization affected the increase in cases. It emerged that IVF is only part of the fault. The increase would actually be due to the rise of the average age of future mothers, it would therefore be largely natural and the result of a social phenomenon.

It has been known for a long time that more adult women are more likely to incur twin pregnancies. There are even 150-year-old articles on the subject. Nevertheless, the phenomenon has been analyzed little and without measurable statistical data. Until today, at least. The study of the two doctors in fact starts from the data collected in periods in which the IVF did not exist.

The starting point was the pregnancies between 1949 and 1966, before assisted fertilization. The researchers found that women over the age of 35 had 3 times the chances of having twin births. The odds were 4 times greater in the case of African American women. Usually the children were twins who were heterozygous and therefore not identical.

Later, researchers analyzed data from 1971 to 2016. In times of great social change, there was a higher rate of 30-40 year old mothers. The percentage rose from 14% in 1971 to 42% in 2015 (31% among African-American women). This phenomenon is also accompanied by an increase in in vitro fertilization and the number of twin births.

In vitro fertilization contributed to the increase in twin births. Yet in 2016 it seems to have been the cause of only 24% of these.

Source: brown.edu