Aurora magazine

The team led by Dr. Gang Huang may have found a key gene in the development of myelodysplastic syndromes (MDS). The expression indicates a group of untreatable blood diseases that can lead to a number of other diseases. The dysfunctions are among the causes of leukemia.

Myelodysplastic syndromes are linked to various genetic mutations. People suffering from the disease show recurrent anomalies, linked to epigenic and metabolic problems. However, the impact of mutations is not the direct cause of the occurrence of the disease. The team identified HIF1A, a gene that feeds the biological process underlying the different types of MDS. It would be the anomalies in this gene to trigger the process that leads to the disease.

HIF1A is a transcription factor, which is a regulatory gene that drives the actions of other genes. It has a vital role in how cells respond to metabolic changes and oxygenation. In addition, it influences the functions of thousands of genes. Among many things, it regulates the biological functions of hematopoietic stem cells in the bone marrow.

Dr. Huang's team studied the bone marrow of some patients with myelodysplastic syndromes. The researchers analyzed all messenger RNA molecules expressed by genes in the body. They also focused on chemical agents that help regulate genes in cells. The analyzes revealed HIF1A abnormalities in all patients.
It will still take years of study before being able to talk about a therapy. Nevertheless, the discovery could play a central role in the development of new treatments.

Source: cincinnatichildrens.org

In vitro fertilization (IVF) is less effective in women undergoing ovarian endometriosis surgery. In fact, they respond worse to ovarian hyperstimulation necessary for treatments against infertility. Nevertheless, the live birth rate compared to pregnancies remains average. This is what a study published in the journal PLOS One states.

Infertility is one of the consequences of endometriosis, prompting many women to resort to assisted fertilization. According to the study, ovarian endometriosis would have a negative impact on treatments. Endometriotic cysts, even when benign, obstruct the stimulation of the ovaries. It remains unclear how this occurs.

The researchers involved 201 infertile women with ovarian endometriosis. In 108 of them, the disease had touched only one of the two ovaries. In addition, they included 402 healthy women who were undergoing assisted reproduction as a control group. To get more accurate data, scientists took into account factors such as age and anti-mullerian hormone levels.

According to the data, women with endometriosis showed a worse response to hormonal stimulation. 30.8% of the first group failed the first treatment cycle, against 22.3% of the second group. A more in-depth analysis showed that women who had operated against endometriosis had even worse results.

Ovarian endometriosis limits the number of oocytes. The surgery would seem to make the situation even worse. The authors of the study therefore recommend to conserve some oocytes before surgery.

Source: endometriosisnews.com

Myelodysplastic syndromes are genetic diseases that affect the bone marrow. Those suffering from these diseases have dysfunctional stem cells, unable to produce the right number of blood cells. This causes deficiency of red blood cells, white cells and platelets. In some cases it even leads to the development of acute myeloid leukemia.

Myelodysplastic syndromes affect about 1 person every 12,500 in Europe. The most affected are the elderly over 70 years, among which the rate rises to 1 person every 3,000. They are therefore caused by anomalies present in the DNA, which trigger the mutations within the stem cells. However, the precise mechanism is still unclear and largely unknown. It is thought that mutations may be related both to exposure to toxic substances and to congenital factors.

Diseases usually start from a few damaged haematopoietic stem cells. These multiply and produce new abnormal cells. Sick cells can not produce specialized mature cells. This leads to a progressive decrease of the blood cells and an impoverishment of the organism.

It happens that the diagnosis takes place before the onset of symptoms, thanks to random blood tests. However, most patients perform analyzes when they start to feel that something is wrong. Symptoms are usually linked to the lack of a particular group of cells.

Many patients complain of weakness and difficulty breathing, related to the low number of red blood cells. Others are affected by recurrent bacterial infections caused by white blood cell deficiency. Lack of platelets, on the other hand, causes bruises, blood loss and bleeding gums. In about 15% of cases there is also an enlarged liver, spleen and lymph nodes.

Source: hematology-pavia.it

Postmortem DNA analysis can help explain cases of sudden death by heart attack. However, expert professionals are needed to interpret the data, which is not always clear. For this purpose, the American College of Medical Genetics and Genomics (ACMG) has drafted a set of guidelines to follow. According to Dr. Steven White, these can help understand the causes of certain deaths and also to prevent the risk in the victim's relatives.

Genetic tests are usually thought of as a tool to prevent cardiovascular disease. Not always possible and it happens that some people die without an apparent reason. The so-called genomic autopsy is a way to diagnose post-mortem disease. Although it is useless for the person who has already left, it is very precious for siblings and children. In some cases, it can help prevent further deaths caused by the same genetic variant.

Death from sudden heart attack kills about 450,000 people a year in the United States. In most cases, deaths are caused by coronary or similar diseases. Nevertheless, among these there are 5,000 young people, of whom 40% died without an apparent reason. In these cases, traditional autopsies fail to give any answers. It is thought that the reasons for these deaths are hereditary cardiomyopathies, not diagnosed early.

Dr. Steven White examined 25 cases of sudden death left without explanation. Analyzing 99 genetic variants, he identified 27 anomalies common to 16 of the victims. These could be the cause of deaths.

Source: medicalxpress.com