Schizophrenia (SCZ) could be associated with genetic alterations that can appear at the beginning of life. Such somatic variants in the NRXN1 and ABCB11 genes could lead to SCZ, according to researchers at Boston Children’s Hospital.
Alterations in chromosome number can play a role in cancer progression. An analysis of recurrent aneuploidies, such as the duplication of the long arm of chromosome 1, revealed that it was required for the proliferation of cancer cells carrying this alteration, an effect that was similar to so-called oncogene addiction. These findings have therapeutic implications that could benefit cancer patients depending on the genetic singularity of their tumor cells.
Parasitic diseases caused by trypanosomatid protozoa have long been treated with traditional methods. However, the effectiveness of current treatments for leishmaniasis is limited. Some are toxic, or have been abandoned, such as in the cases of Chagas disease and human African trypanosomiasis (HAT), commonly known as sleeping sickness.
The development of an embryo in its early stages involves a series of processes in which cells interact and organize to form tissues. In humans, these stages are studied with animal models, stem cells and cell aggregates that mimic natural development phases, or with human embryos, depending on their availability and a strict protocol. Now, in back-to-back papers published online in Nature, scientists from Yale University and the University of Cambridge have two new embryonic models formed from human stem cells to study development after embryo implantation in the uterus.
Over the past decade there has been much research into the use of induced pluripotent stem cells (iPSCs) as a cell therapy to regenerate tissue and treat heart disease. Now, one researcher has narrowed the focus down to treating heart disease not with whole cells, but with mitochondria derived from iPSCs. Gentaro Ikeda, a researcher at the Department of Medicine at Stanford University, has worked on generating extracellular vesicles (EVs) containing mitochondria from pluripotent stem cell-derived cardiomyocytes and administering these to restore the functionality of the myocardium in a porcine model of an infarct.
Several developmental biology and regenerative medicine laboratories that use cellular reprogramming techniques presented their latest results on the differences in the states of induced pluripotent stem cells (iPSCs) during a Plenary Session on “Epigenetic regulation of distinct cell states” at the Annual Meeting of the International Society for Stem Cell Research (ISSCR), in Boston from June 14 to 17, 2023.
With CRISPR-Cas9 technology making its way toward clinical practice, laboratories are studying different gene-editing techniques, from base editors to prime editors, to correct mutations associated with various pathologies. Researchers at Tessera Therapeutics Inc. have been inspired by retrotransposons to develop a tool for editing DNA using RNA and reverse diseases such as phenylketonuria (PKU) or sickle cell disease (SCD).
The degradation pathways of cellular components can be shared by different molecules or selectively replace different substances and organelles. In the brain, synaptic transmission involves signaling pathways for a wide range of molecules, vesicles and receptors that require constant recycling. A proteomic study from the University of Lausanne and the University of Fribourg sheds light on brain autophagy-selective routes in adolescent, adult and aged brains.
A new study has shown that a uterine bacterium is one cause of endometriosis and that preventing the infection could prevent development of the pathology, in which tissue similar to the lining of the uterus grows in the abdominal cavity.
Two new polio vaccine candidates designed to prevent the emergence of vaccine-derived virulent polioviruses have been shown to induce immune responses in mice, raising the possibility of eradicating the virus. For that to happen, the transmission of all poliovirus serotypes must be blocked. However, the vaccine used to control polio prevents disease but does not stop transmission, enabling the virus to mutate and regain virulence.