When a group of British scientists studied which proteins might be in the wrong place of the cell in amyotrophic lateral sclerosis (ALS) patients, they found hundreds of them mislocalized. Other studies had shown that TDP-43 protein was mislocalized. But it was not known that the phenomenon was widespread, and affected mRNA as well as proteins. “Our study revealed that these mislocalized proteins were heavily involved in RNA binding functions and exhibited high binding affinities to RNAs,” Rickie Patani told BioWorld.

The overexpression of the MYC oncogene could be explained through a new pathway that would act before transcription, when MYC binds to DNA. A group of scientists from Spain have identified how the ERK2 kinase interacted with the CDK9 protein, enabling it to bind to DNA in the promoter region of MYC.

Avoidance of graft-vs.-host disease (GVHD) after a hematopoietic stem cell transplant could depend on certain members of the microbiome. According to a study led by scientists at the Fred Hutchinson Cancer Center (FHCC), while some species of intestinal bacteria repressed the expression of the major histocompatibility complex II (MHC-II), others induced it and triggered the immune response that produces GVHD.

The Hubmap consortium has released the atlas of three human organs, a cell-by-cell map based on overlaid images from microscopy and molecular data. Maps of the intestine, the kidney and the placenta, published in three simultaneous articles, have revealed the cellular morphology and architecture of these organs in healthy and diseased conditions.

Using whole genome sequencing, scientists at Boston Children’s Hospital have studied the genes and mutations of ataxia-telangiectasia (A-T) that would respond to treatments with splice-switching antisense oligonucleotides (ASOs). Their work, published on July 12, 2023, in Nature, determined the appropriate individualized genetic therapy for these patients and identified a new drug.

After CAR T-cell immunotherapy for leukemia, some children have a longer remission because the engineered cells remain active and control or prevent the growth of new tumor cells. A new collaborative study has found that these persistent cells expressed certain genes that could be identified through a transcriptional signature. The finding could explain why the treatment does not work in some patients, and potentially help to improve it, reducing relapses.

Researchers from the Institute of Translational Genomics at Helmholtz Munich have described a genetic overlap between type 2 diabetes (T2D), a disease that is also associated with obesity, and osteoarthritis, a degeneration of the joints that worsens with age and coincides in the factor risk of being overweight. The researchers used genetic data, multiomics and functional analysis of the tissues T2D and osteoarthritis express to identify which genes were associated and correlated with both diseases. They published their results on July 10, 2023, in The American Journal of Human Genetics.

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.