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Category: genetics – Page 6

Why some genes are more error-prone: Scientists uncover hidden rule in DNA transcription

Every living cell must interpret its genetic code—a sequence of chemical letters that governs countless cellular functions. A new study by researchers from the Center for Theoretical Biological Physics at Rice University has uncovered the mechanism by which the identity of the letters following a given nucleotide in DNA affects the likelihood of mistakes during transcription, the process by which DNA is copied into RNA. The discovery offers new insight into hidden factors that influence transcription accuracy.

The work is published in the journal Proceedings of the National Academy of Sciences.

The study was authored by Tripti Midha, Anatoly Kolomeisky and Oleg Igoshin. It shows why genetic sequences are not equally prone to errors. Instead, the identity of the two nucleotides immediately downstream of a site significantly alters the error rate during transcription. This discovery builds on prior insights by the same authors on enzymatic proofreading mechanisms, factoring in the effects of distinct kinetics for different nucleotide additions.

Child walks again after receiving experimental treatment for rare genetic condition

In what experts are calling a “dream come true,” scientists used a recent biochemical discovery to help an 8-year-old boy with a rare genetic condition regain mobility.

Researchers from NYU Langone demonstrated, in a study published in Nature on Wednesday, how a chemical precursor to a commonly available enzyme, CoQ10, can help brain cells overcome a rare genetic condition that severely hobbles cells’ energy production process. Without treatment, the boy’s condition is known to deteriorate rapidly and could be fatal.

NYU Langone researchers have helped an 8-year-old boy regain mobility using an experimental treatment.

A molecular switch packs DNA on time for cell division

If measured from beginning to end, the DNA in our cells is too long to fit into the cell’s nucleus, explaining why it must be constantly folded and packaged. When it is time for cell division, and the genetic information needs to be passed on to the next generation, DNA must be packed particularly tightly, or else serious consequences for a cell’s viability might ensue.

Real-time trial shows AI could speed cancer care

A new study by researchers at the Icahn School of Medicine at Mount Sinai, Memorial Sloan Kettering Cancer Center, and collaborators, suggests that artificial intelligence (AI) could significantly improve how doctors determine the best treatment for cancer patients—by enhancing how tumor samples are analyzed in the lab.

The findings, published in Nature Medicine, showed that AI can accurately predict genetic mutations from routine pathology slides—potentially reducing the need for rapid genetic testing in certain cases.

The paper is titled “Enhancing Clinical Genomics in Lung Adenocarcinoma with Real-World Deployment of a Fine-Tuned Computational Pathology Foundation Model.”

Major autism study uncovers biologically distinct subtypes, paving the way for precision diagnosis and care

Researchers at Princeton University and the Simons Foundation have identified four clinically and biologically distinct subtypes of autism, marking a transformative step in understanding the condition’s genetic underpinnings and potential for personalized care.

Analyzing data from over 5,000 children in SPARK, an cohort study, the researchers used a computational model to group individuals based on their combinations of traits.

The team used a “person-centered” approach that considered a broad range of over 230 traits in each individual, from social interactions to to developmental milestones, rather than searching for to single traits.

Genome editing enables mice to produce their own weight-loss drug for months

Weight-loss drugs have surged in popularity, promising rapid results with regular injections. Now, researchers from Japan report a way for the body to make its own weight-loss drugs, doing away with injections in favor of a one-time treatment.

In the study, “Targeted In Vivo Gene Integration of a Secretion-Enabled GLP-1 receptor agonist Reverses Diet-induced Non-genetic Obesity and Pre-diabetes,” published in Communications Medicine, researchers from the University of Osaka reveal a modified genome editing approach to tackle noncommunicable, multifaceted diseases.

The approach introduced a new protein-coding gene, rather than attempting to correct a mutation in an existing gene and could be the key to lifelong effective weight management.

Neanderthal DNA could be the cause of some modern brain malformations

If you regularly experience headaches, dizziness, balance problems and blurred vision, our Neanderthal cousins could be to blame.

These are common symptoms of Chiari malformations, structural defects in which the lower part of the brain extends into the spinal cord. People with this condition have skulls shaped like those of our ancient relatives, leading to a hypothesis (known as the Archaic Homo Introgression Hypothesis) that it may be a genetic legacy from interbreeding between and Neanderthals.

To investigate this, Kimberly Plomp of the University of the Philippines Diliman and colleagues zeroed in on Chiari 1, the mildest form of the condition, which affects around 1 in 100 people.

Late eating is associated with impaired glucose metabolism

Our metabolic processes differ depending on the time of day and many of them are more active in the morning than in the evening. Although studies show that eating late in the day is associated with an increased risk of obesity and cardiovascular diseases, little is known about how the time we eat affects glucose metabolism and to what extent this is genetically defined.

Prof. Olga Ramich from the German Institute of Human Nutrition Potsdam-Rehbrücke (DIfE) and her team recently investigated this using data from a twin cohort from 2009-10. Their article was published in the journal eBioMedicine.

The is a hierarchically structured 24-hour time control system in the body that regulates behavior and metabolism via a central clock in the brain and peripheral clocks in organs such as the liver or pancreas. As a result, our differ depending on the time when we eat, which leads to diurnal fluctuations in glucose metabolism and the release of hormones after a meal.