Aurora magazine

A Rice University bioengineering team is working on a new gene therapy against sickle cell anemia. If the findings were confirmed, we would be able to correct the mutation causing the disease already in the womb. One of the available therapies against sickle cell anemia is stem cell transplantation. Unfortunately, only 15% of patients find a compatible donor between relatives and volunteers.

The authors of the study have developed an alternative more compatible with the organism and available to all. The therapy uses CRISPR-Cas9 to repair the patients' hematopoietic stem cells. What is therapy? Doctors isolate the patient's bone marrow cells and correct them with genetic editing. At this point they use chemotherapy to eliminate part of the sick stem cells, so as to make room for healthy ones.

Then they implant the edited cells into the patient and wait for them to reproduce. Repairing stem cells instead of replacing them eliminates the risk of rejection, cutting most of the problems associated with transplantation. At first, the team tested guinea pig therapy using stem cells from 5 sick patients.

The edited cells multiplied and continued to function for about 4 months. In a second phase, the researchers used a more recent and precise version of the CRISPR-Cas9. This change has led to less unexpected changes. Genetic editing has corrected 40% of the cells. 50% of the stem cells cut the wrong DNA without correcting it. 10% continued to produce the sick version of hemoglobin.

Source: medicalxpress.com

Fat is often demonized, but it is essential for the body's health. Everything depends on the type of fat: the white cells are the reserve cells, the beige and brown ones have a rich sympathetic innervation. The latter increase the basal metabolism and burn more calories.

Researchers at the University of Utah have discovered a gene that regulates the transition from white fat to beige / brown fat, and vice versa. White fat cells with an overexpressed version of the EFB2 gene have more chances to turn into beige cells. To activate the gene, however, several factors must come into play, not all clear ones. The authors of the study therefore focused on the gene encoding TLE3, a protein from the same region as EFB2.

They discovered that the protein in question acts to inhibit the action of EFB2 on fat cells. To prove the discovery, the scientists deleted TLE3 from some guinea pigs and put them in the cold for several days. In theory, low temperatures basically stimulate the transformation of white cells into beige.

Without the TLE3 brake, the process was maximized: the guinea pigs developed large amounts of beige fat. What were the consequences? Beige fat burns far more calories than white fat. Mice with high levels of this fat have therefore lost weight in the cold and remained stable in the heat. The discovery could help many people with metabolic problems, obesity and type 2 diabetes.

Source: medicalxpress.com

The testicular tissues of 189 young men show that fertility can survive chemotherapy with the right techniques. Dr. Hanna Valli-Pulaski's team analyzed the tissues taken for biopsies. Inside them there are sperm progenitor cells, which can be used to obtain gametes to be used for IVF.

Some children with cancer are too young to produce sperm to keep. Even the older ones, can have problems in this sense during the therapies, because of the stress. Until a few years ago, this would have denied them any chance of having children in adulthood. Indeed, chemotherapy tends to reduce or cancel subjects' fertility. Lastly, alternatives are emerging. The preservation of testicular tissue is one of these.

The tissues taken with biopsies contain stem cells, which could generate new spermatozoa. The study in question shows that these undifferentiated stem cells could also be obtained from those in the early stages of treatment. This therefore leaves a greater amount of time to act, in order to determine how to separate healthy and tumor cells present in the samples.

The study also includes meetings between doctors and patients' families focused only on future fertility. The goal is to analyze the benefits of post-cancer life and also promote alternatives that are currently little known. To date, only 39% of patients use a fertility preservation tool.

Source: eurekalert.org

A study on zebrafish embryos is helping neuroscientists to better understand diseases like autism and schizophrenia. University of Ohio researchers used minnows to analyze abnormalities in neurological development. In particular, they focused on the loss of the PCDH19 gene. It seems that the phenomenon is one of the causes of these diseases, even if the mechanics are still unclear.

Studies have revealed hundreds of genes linked to schizophrenia and autism. Unfortunately, scientists fail to understand how mutations affect brain development. For this reason, the team in question analyzed some zebrafish embryos. As these are transparent, it is easier to follow their development. Furthermore, zebrafish share a good chunk of DNA with humans.

The authors of the study introduced a mutation of PCDH19 in zebrafish, after which they analyzed the effects with a microscope. Thanks to the power of the instrumentation, scientists were able to observe neuronal activity. They discovered that the mutated embryos had much more grouped neurons than normal. It is still unclear what it means, but the unmodified embryos showed nothing of the sort.

The genetic mutation seems to have caused the connection between cells that normally do not interact. Perhaps diseases are caused by the interaction between areas that they should not communicate. Perhaps, the phenomenon becomes problematic when there are too many cells in a single network. For the moment we have only hypotheses that will be deepened.

Source: medicalxpress.com