Synonymous or silent mutations do not change the sequence of the protein that they encode. With some exceptions, they do not trigger any effect. Last year, however, a study by researchers from the University of Michigan tried to refute this concept after finding that they altered the protein function. But breaking dogmas can have answers. A group of scientists from various institutions has found that this work could have a method error.
The loss of myelin in the cerebral cortex of multiple sclerosis (MS) patients could be recovered if oligodendrocytes, the cells that myelinate neuronal axons, work at a higher rate than they are destroyed. However, a group of scientists from the University of Munich have shown, in cortical MS mice, that this does not occur. The oligodendrocytes do not contribute to remyelination efficiently.
The inhibition of an enzyme associated with neurodegeneration processes reduced the toxic effect of tau, one of the proteins that damage neurons in Alzheimer’s disease (AD). A group of scientists from the University of Helsinki have shown in vitro and in animal models of AD how inhibition of the prolyl endopeptidase (PREP) enzyme reduced tau protein aggregations.
The analysis of thousands of proteins in the brain has revealed the association of astrocytes with obsessive-compulsive disorder (OCD). A proteomic study by researchers from the University of California Los Angeles (UCLA) has identified them in different cellular compartments of astrocytes and neurons. One such protein, the postsynaptic protein SAPAP3, appeared to regulate the organization of the actin cytoskeleton. Its deficit in astrocytes could cause OCD.
As prostate cancer progresses, tumors lose the androgen receptor (AR) on which initial treatment is based. Oftentimes, such patients also lose expression prostate-specific membrane antigen (PSMA), which is the target of approved agent Pluvicto (lutetium (177Lu) vipivotide tetraxetan; Novartis AG) as well as a number of experimental drugs. Such patients can no longer benefit from either androgen- or PSMA-directed therapy.
RNA editing in schizophrenia (SCZ)-associated genes was decreased in postmortem brains of individuals of European descent, according to a study from the University of California, Los Angeles (UCLA). The scientists obtained the RNA editome from SCZ brains to detect the sequence changes in their RNA and observed hypoediting in noncoding regions related to mitochondrial function, such as the mitofusin-1 (MFN1) gene.
The editing in human cells and in mice of the survival motor neuron 1 gene (SMN1) restored the levels of SMN protein that the mutation of the SMN2 gene produces in spinal muscular atrophy. Scientists from the Broad Institute in Boston and The Ohio State University reversed the mutation using the base editing technique.
The editing in human cells and in mice of the survival motor neuron 1 gene (SMN1) restored the levels of SMN protein that the mutation of the SMN2 gene produces in spinal muscular atrophy (SMA). Scientists from the Broad Institute in Boston and The Ohio State University reversed the mutation using the base editing technique. “This base editing approach to treating SMA should be applicable to all SMA patients, regardless of the specific mutation that caused their SMN1 loss,” the lead author David Liu, a professor and director of the Merkin Institute of Transformative Technologies in Healthcare at the Broad Institute of Harvard and MIT, told BioWorld.
Contrary to current opinion, genomic instability is not the origin of cancer in patients with short telomere syndromes (STSs), researchers from the Johns Hopkins University School of Medicine reported April 2, 2023, in Cancer Cell. Instead, short telomeres appeared to cause memory T-cell dysfunction that increased the risk of a small number of tumor types in individuals with STS. Such syndromes can cause premature aging of different physiological systems.
HIV infects immune cells, mainly CD4+ T cells. But they are not the only ones. It also settles in the genome of myeloid cells, monocytes or macrophages. According to a study from Johns Hopkins University, the viral DNA inserted into myeloid cells is functional. The virus also reactivated from the monocyte-derived macrophage reservoir. New cure strategies need to take these cells into account to eradicate the virus from the body.