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Category: genetics – Page 138

Puberty triggers brain rewiring in genetic condition tied to autism, mouse study suggests

Changes in brain connectivity before and after puberty may explain why some children with a rare genetic disorder have a higher risk of developing autism or schizophrenia, according to a UCLA Health study.

Developmental psychiatric disorders like autism and schizophrenia are associated with changes in brain . However, the complexity of these conditions make it difficult to understand the underlying biological causes. By studying genetically defined , researchers at UCLA Health and collaborators have shed light on possible mechanisms.

The UCLA study examined a particular genetic condition called chromosome 22q11.2 deletion syndrome—caused by missing DNA on chromosome 22—which is associated with a higher risk of developing neuropsychiatric conditions such as autism and schizophrenia. But the underlying biological basis of this association has not been well understood.

Diagnosis and Management of Children With Atypical Neuroinflammation

Pediatric neuroimmune disorders comprise a heterogeneous group of immune-mediated CNS inflammatory conditions. Some, such as multiple sclerosis, are well defined by validated diagnostic criteria. Others, such as anti-NMDA receptor encephalitis, can be diagnosed with detection of specific autoantibodies. This review addresses neuroimmune disorders that neither feature a diagnosis-defining autoantibody nor meet criteria for a distinct clinicopathologic entity. A broad differential in these cases should include CNS infection, noninflammatory genetic disorders, toxic exposures, metabolic disturbances, and primary psychiatric disorders. Neuroimmune considerations addressed in this review include seronegative autoimmune encephalitis, seronegative demyelinating disorders such as neuromyelitis optica spectrum disorder, and genetic disorders of immune dysregulation or secondary neuroinflammation.

CRISPR screen identifies EIF3D as critical regulator of stem cell pluripotency maintenance

A team of CiRA researchers has uncovered the crucial role of EIF3D—a protein translational regulator—in primed pluripotency. The research is published in the journal Science Advances.

According to the central dogma of molecular biology, information flows from DNA to RNA to protein. While much is known about —the ability to differentiate into any other cell type in the body and to divide indefinitely—in terms of transcriptional and epigenetic regulation, as well as , how protein translation ties these control mechanisms together remains largely underexplored.

To identify genes important for maintaining primed pluripotency—a state poised for differentiating into various cell types in the body, the research team, led by Associate Professor Kazutoshi Takahashi and Assistant Professor Chikako Okubo, began with a genome-wide genetic screen based on CRISPR interference (CRISPRi) that systemically reduces the expression of every single gene in the genome of a pluripotent stem cell (PSC) line.

Strategic gene placement in bacteria offers insights into evolutionary success

Bioinformaticians from Heinrich Heine University Düsseldorf (HHU) and the university in Linköping (Sweden) have established that the genes in bacterial genomes are arranged in a meaningful order. In the journal Science, they explain that the genes are arranged by function: If they become increasingly important for faster growth, they are located near the origin of DNA replication. Accordingly, their position influences how their activity changes with the growth rate.

Are genes distributed randomly along the , as if scattered from a salt shaker? This opinion, which is held by a majority of researchers, has now been disputed by a team of bioinformaticians led by Professor Dr. Martin Lercher, head of the research group for Computational Cell Biology at HHU.

When bacteria replicate their in preparation for , the process starts at a specific point on the bacterial chromosome and continues along the chromosome in both directions.

Cell biologists discover two proteins are key to proper transfer of genetic material

The biological research of UC Santa Cruz’s Needhi Bhalla to determine the molecular motions at the heart of heredity has yielded a new discovery: The proper transfer of genetic materials depends on two key proteins that choreograph the delicate dance between chromosomes when sexual-reproduction cells divide.

When cells split to create eggs and sperm, they must undergo a crucial process called “meiotic crossover recombination.” This mechanism ensures that is properly shuffled between chromosomes, preventing errors that could lead to disorders such as miscarriages, infertility, birth defects, and even cancer.

This process also results in the endearing transfer of traits that parents see in their children. And beyond contributing to parental pride, Bhalla says meiotic crossover recombination is fundamental for human evolution by promoting . That’s why the identification of two specific proteins that play central roles in controlling how and where these crossovers happen is so significant.

Which Biomarkers Are Associated With Cancer Cachexia?

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Cancer cells mimic Sherpa genes to survive low oxygen

Results of a study show convergent genetic adaptation under hypoxia (lack of oxygen) between populations living at high-altitude in the Himalayan region such as Tibetans and Sherpas, and the development of oxygen-starved cancer cells. The study was directed by Rodrigo Toledo, Head of the Vall d’Hebron Institute of Oncology’s (VHIO) Biomarkers and Clonal Dynamics Group and published in the journal Cancer Discovery.

Patients with cyanotic congenital heart disease (CCHD) are chronically hypoxic and have an estimated six-fold higher risk of developing pheochromocytoma and paraganglioma (PPGL), which are associated with (NETs) of the adrenal glands and/or paraganglia, respectively. These cancers can continue to grow and proliferate under chronic hypoxia.

“With this study, we aimed to achieve deeper insights into how tumors can survive, grow, and even metastasize under low oxygen conditions, known as hypoxia. Our findings reveal a broad convergence in in tumors that continue to develop and grow under hypoxia, and in high-altitude populations who thrive in such a challenging environment,” said Toledo, corresponding author of this present article.

Smart delivery tech boosts CRISPR efficiency, restores vision in mice

A research team from Helmholtz Munich and the Technical University of Munich has developed an advanced delivery system that transports gene-editing tools based on the CRISPR/Cas9 gene-editing system into living cells with significantly greater efficiency than before. Their technology, ENVLPE, uses engineered non-infectious virus-like particles to precisely correct defective genes—demonstrated successfully in living mouse models that are blind due to a mutation.

This system also holds promise for advancing by enabling precise genetic manipulation of engineered , making them more universally compatible and thus more accessible for a larger group of cancer patients.

The work is published in the journal Cell.

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