A group of researchers has discovered a link between the ANO7 gene and the degree of aggression of prostate cancer. Who presents certain genetic mutations, would be more at risk of developing a violent form of the disease. The carriers of the modified gene would also have less chance of survival than the average.

To date there are no ways to diagnose the violent forms of prostate cancer in the early stages. The researchers then studied the DNA of 1,700 patients, comparing it with that of as many healthy men. They focused on mutations in the ANO7 gene, already linked to this type of tumor. They have thus identified genetic mutations related to aggressive forms of cancer.

According to the researchers, a genetic test for the ANO7 gene could identify patients at risk in the early stages. This would allow you to act immediately with more effective and better targeted treatments. However, the link between the gene and the disease is still unclear. Scientists have not yet been able to understand what the biological functions of ANO7 are. Further studies could perhaps lead to the development of treatments that act on these functions.

The team of Professor Johanna Schleutker has identified a mutation in particular. Carriers are more likely to get sick and it is easier than a severe form of cancer. Another mutation is instead linked to a lower probability of survival. The data could however be partial.

Although the study sample was very large, it included only Caucasian individuals. To validate the discovery, studies will be needed involving subjects from other parts of the world.

Source: utu.fi/en

A genetic test could identify individuals at high risk for osteoporosis and low bone mineral density (BMD). The researchers identified 899 genetic sites related to the problems, of which 613 were unknown. The discovery could support current diagnostic techniques, facilitating early diagnosis and prevention.

The study identified 1362 single nucleotide polymorphisms, located in 899 loci. Only 286 of these had already been identified, while 613 were completely new. Later, researchers entered data into a genetic algorithm. Combining data with weight, height, gender and age, the algorithm was able to predict the predisposition to osteoporosis with great precision.

In addition, the researchers identified 142,417 autosome genetic variants and linked to the X chromosome, related bone mineral density. The most important were in 4 loci - 385, 324, 336, 89 - all related to BMD. In particular, chromosome 7 of locus 385 contained 20 single nucleotide polymorphisms. All 20 were significant for osteoporosis and bone density.

Participants with low results in the analysis of the algorithm showed significant changes in BMD. Many of these have had osteoporosis problems, others of sudden rupture due to poor bone mineral density. Further studies could help develop new predictive genetic tests, reduce the incidence of the disease and facilitate prevention.

Source: rheumatologyadvisor.com

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