Lifeboat Foundation

Aging is known to have profound effects on the human brain, prompting changes in the composition of cells and the expression of genes, while also altering aspects of the interaction between genes and environmental factors. While past neuroscience studies have pinpointed many of the molecular changes associated with aging, the age-related genetic factors influencing specific neuron populations remains poorly understood.

Recent studies on flies, mice, primates and human brain tissue utilizing single-cell or single-nucleus RNA-sequencing and genetic experimental techniques shed new light on these cell-type-specific changes. For instance, they unveiled the effects of aging on glial cells in the mouse and human brain, associations between cell-specific changes and modified chromatin proteins, and the influence of DNA methylation in the aging of various tissues.

Researchers at University of California (UC) San Diego and Salk Institute recently carried out a study aimed at better understanding how both age and sex impact human cortical neurons at a single-cell level. Their findings, published in Neuron, offer new insights into how aging affects cell composition, gene expression and DNA methylation across human brain cell types, while also uncovering differences between gene expression and DNA methylation in females and males.

Alternative splicing is a genetic process where different segments of genes are removed, and the remaining pieces are joined together during transcription to messenger RNA (mRNA). This mechanism increases the diversity of proteins that can be generated from genes, by assembling sections of genetic code into different combinations. This is believed to enhance biological complexity by allowing genes to produce different versions of proteins, or protein isoforms, for many different uses.

Summary: Researchers identified how gene variations lead to brain changes associated with essential tremor, a common movement disorder affecting over 60 million people worldwide. The study used brain MRI scans and genetic data from over 33,000 adults to uncover genetic links to structural changes in the brain’s cortex and cerebellum.

These findings could lead to new drug targets by revealing how faulty protein disposal systems disrupt neural pathways, resulting in uncontrollable hand tremors. The research marks a significant step toward understanding and treating essential tremor more effectively.

The brain’s white matter comprises areas of the central nervous system made up of myelinated axons. Its name is derived from the pale appearance of the lipids that comprise myelin. Myelin is a segmented sheath that insulates axons, ensuring the conduction of neural signals. The loss of myelin is documented in a number of neurodegenerative pathologies, including Alzheimer’s and Parkinson’s disease, and perhaps most notably, multiple sclerosis. As people age, demyelination becomes more likely.

Researchers have long suspected a relationship between cardiorespiratory fitness and the integrity of the brain’s white matter as people age. However, a lack of specific evidence has led researchers at the National Institutes of Health to conduct a study examining the strength of this correlation, now published in the Proceedings of the National Academy of Sciences.

To establish a correlation between cardiovascular fitness and cerebral myelination, the researchers recruited a cohort of 125 participants from age 22 to 94 years old. The cardiovascular fitness of the participants was quantified as the maximum rate of oxygen consumption, popularly and succinctly known as VO₂max. Myelin content was defined as the myelin water fraction, which the researchers estimated through an advanced multicomponent relaxometry MRI method.

A multi-university research team co-led by University of Virginia engineering professor Gustavo K. Rohde has developed a system that can spot genetic markers of autism in brain images with 89 to 95% accuracy.

Their findings suggest that doctors may one day see, classify and treat autism and related neurological conditions with this method, without having to rely on or wait for behavioral cues. And that means this truly personalized medicine could result in earlier interventions.

“Autism is traditionally diagnosed behaviorally but has a strong genetic basis. A genetics-first approach could transform understanding and treatment of autism,” the researchers wrote in a paper published in the journal Science Advances.

A new Nature Human Behaviour study, jointly led by Dr. Margherita Malanchini at Queen Mary University of London and Dr. Andrea Allegrini at University College London, has revealed that non-cognitive skills, such as motivation and self-regulation, are as important as intelligence in determining academic success. These skills become increasingly influential throughout a child’s education, with genetic factors playing a significant role.

The research, conducted in collaboration with an international team of experts, suggests that fostering non-cognitive skills alongside cognitive abilities could significantly improve educational outcomes.

“Our research challenges the long-held assumption that intelligence is the primary driver of academic achievement,” says Dr. Malanchini, Senior Lecturer in Psychology at Queen Mary University of London.

A newly discovered code within DNA—coined “spatial grammar”—holds a key to understanding how gene activity is encoded in the human genome.

This breakthrough finding, identified by researchers at Washington State University and the University of California, San Diego and published in Nature, revealed a long-postulated hidden spatial grammar embedded in DNA. The research could reshape scientists’ understanding of gene regulation and how genetic variations may influence gene expression in development or disease.

Transcription factors, the proteins that control which genes in one’s genome are turned on or off, play a crucial role in this code. Long thought of as either activators or repressors of gene activity, this research shows the function of transcription factors is far more complex.

CRISPR will get easier and easier to administer. What does that mean for the future of our species?

The improved gene-editing approach combines prime editors with a more efficient recombinase to insert or substitute gene-sized DNA segments.