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Summary: Researchers identified variants in the DDX53 gene, located on the X chromosome, as contributors to autism spectrum disorder (ASD). These genetic variants, found predominantly in males, provide critical insights into the biological mechanisms behind autism’s male predominance.

The study also uncovered another potential gene, PTCHD1-AS, near DDX53, linked to autism, emphasizing the complexity of ASD’s genetic architecture. This research highlights the importance of the X chromosome in ASD and opens avenues for more precise diagnostics and therapeutics.

Continue reading “New Genetic Link to Autism Identified on X Chromosome” »

The trans–Tango genetic strategy, which mediates signaling across synapses, was adapted to identify neural connections in a vertebrate nervous system, with synaptic partners confirmed in the retina and spinal cord of larval zebrafish.

Caltech researchers have developed a new method to map the positions of hundreds of DNA-associated proteins within cell nuclei all at the same time. The method, called ChIP–DIP (Chromatin ImmunoPrecipitation Done In Parallel), is a versatile tool for understanding the inner workings of the nucleus during different contexts, such as disease or development.

The research was conducted in the laboratory of Mitchell Guttman, professor of biology, and is described in a paper that appears in the journal Nature Genetics.

Nearly all cells in the human body contain the same DNA, which encodes the blueprint for creating every cell type in the body and directing their activities. Despite having the same genetic material, different cell types express unique sets of proteins, allowing for the various cells to perform their specialized functions and to adapt to conditions within their environments. This is possible because of careful regulation within the nucleus of each cell and involves thousands of regulatory proteins that localize to precise places in the nucleus.

Gene-editing technologies for cancer and blood disorders are maturing a little more than a year after the first CRISPR drug was approved.

Researchers at the University of Hawai’i at Mānoa have discovered that a virus, FloV-SA2, encodes one of the proteins needed to make ribosomes, the central engines in all cells that translate genetic information into proteins, the building blocks of life. This is the first eukaryotic virus (a virus that infects eukaryotes, such as plants, animals, fungi) found to encode such a protein.

The research is published in the journal npj Viruses.

Viruses are packets of genetic material surrounded by a protein coating. They replicate by getting inside of a cell where they take over the cell’s replication machinery and direct it to make more viruses. Simple viruses depend almost exclusively on material and machinery provided by the host cell, but larger, more complex viruses code for numerous proteins to aid in their own replication.

Research utilizing AI tool AlphaFold has revealed a new protein complex that initiates the fertilization process between sperm and egg, shedding light on the molecular interactions essential for successful fertilization.

Genetic research has uncovered many proteins involved in the initial contact between sperm and egg. However, direct proof of how these proteins bind or form complexes to enable fertilization remained unclear. Now, Andrea Pauli’s lab at the IMP, working with international collaborators, has combined AI-driven structural predictions with experimental evidence to reveal a key fertilization complex. Their findings, based on studies in zebrafish, mice, and human cells, were published in the journal Cell.

Continue reading “AI Protein Discovery Unlocks Secrets of Life’s Beginning” »

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Continue reading “Red Light Therapy Improves Eye Function: Glen Jeffery, PhD” »

PHOENIX — Mayo Clinic announces the results of an innovative treatment approach that may offer improvement in overall survival in older patients with newly diagnosed glioblastoma while maintaining quality of life. Glioblastoma is the most lethal type of primary brain cancer due to its aggressive nature and its treatment-resistant characteristics. It is the most common form of primary brain cancer. Each year an estimated 14,500 people in the U.S. are diagnosed with the disease. Results of Mayo Clinic’s phase 2, single-arm study are published in The Lancet Oncology.

Sujay Vora, M.D., radiation oncologist at Mayo Clinic, led a team of researchers investigating the use of short-course hypofractionated proton beam therapy incorporating advanced imaging techniques in patients over the age of 65 with newly diagnosed World Health Organization (WHO) grade 4, malignant glioblastoma.

Results showed that 56% of participants were alive after 12 months and the median overall survival was 13.1 months.” As compared to prior phase 3 studies in an older population having a median survival of only six to nine months, these results are promising,” says Dr. Vora. “In some cases, patients with tumors that have favorable genetics lived even longer, with a median survival of 22 months. We are very excited about these results.”

Eddie Gonzales Jr. – AncientPages.com – Despite awe-inspiring diversity, nearly every lifeform – from bacteria to blue whales – shares the same genetic code. How and when this code came about has been the subject of much scientific controversy.

Image credit: Adobe Stock – Diatomic

Taking a fresh approach at an old problem, Sawsan Wehbi, a doctoral student in the Genetics Graduate Interdisciplinary Program at the University of Arizona, discovered strong evidence that the textbook version of how the universal genetic code evolved needs revision. Wehbi is the first author of a study published in the journal PNAS suggesting the order with which amino acids – the code’s building blocks – were recruited is at odds with what is widely considered the “consensus” of genetic code evolution.