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Study Links MICOS10 Gene Defect to Mitochondrial DNA Depletion Syndrome

Mitochondrial DNA depletion syndrome (MTDPS) is a rare genetic disorder characterized by a marked decrease in mitochondrial DNA (mtDNA).

27 Nov 2024

Novel Genetic Variant Associated with Severe Mitochondrial Dysfunction

The rare hereditary condition known as mitochondrial DNA depletion syndrome (MTDPS) is typified by a significant reduction in mitochondrial DNA (mtDNA).

26 Nov 2024

Overlapping Enhancers Challenge Traditional Genetic Models

The DNA of plants and animals contains their blueprint. However, genes, which are the instructions for generating proteins, are found in a very small portion of the genome roughly 2% in mammals.

25 Nov 2024

Study Reveals Genetics Behind Dilated Cardiomyopathy

A potentially life-changing heart condition, dilated cardiomyopathy, can be caused by the cumulative influence of hundreds or thousands of genes and not just by a single "aberrant" genetic variant, as was previously thought, finds a new study led by researchers at UCL (University College London), Imperial College London and the MRC Laboratory of Medical Sciences.

23 Nov 2024

Scientists Identify Gene Variant Linked to Early Miscarriages in Women

In what could be a major advance in understanding the genetic causes underlying human infertility, scientists led by researchers from Rutgers University-New Brunswick have identified a gene variant directly tied to early miscarriages in women.

23 Nov 2024

Versatile Molecule with a New Role in Genome Maintenance

A multi-institutional team of researchers from the Georgia Institute of Technology has uncovered a hitherto unidentified function for RNA.

22 Nov 2024

Discovery of Large Tandem Duplications Opens New Avenues for Cancer Treatment

Cancer researchers at the University of Chicago and the University of California, San Francisco (UCSF) have discovered that mutations in certain genes can lead to the accumulation of DNA errors, resulting in a specific type of genetic change known as large tandem duplications (TDs) that can arise from the collision of two critical cellular processes: transcription and DNA replication.

21 Nov 2024

How CRISPRi is Helping Combat Drug-Resistant Tuberculosis

Findings on isoniazid-resistant M. tuberculosis reveal key vulnerabilities, suggesting new avenues for treatment strategies against drug-resistant tuberculosis.

20 Nov 2024

Researchers Provide Genetic Diagnosis for 30 Long-Term Undiagnosed Cases

An international team of researchers has provided a genetic diagnosis for 30 individuals whose condition was undiagnosed for years despite extensive clinical or genetic testing.

11 Nov 2024

Study Reveals How Plants Override Genetic Instructions Through DNA Duplication

Biologists at Washington University in St. Louis have discovered the origin of a curious duplication that gives plants multiple ways to override instructions that are coded into their DNA.

7 Nov 2024

Understanding the Dynamics of Stem Cells

Age influences stem cell survival and immune diversity, according to new research on the long-term dynamics of transplanted stem cells in a patient’s body.

1 Nov 2024

Study Links Archaic Gene Variant to Health Risks in First Nations Oceanians

An ancient gene mutation among First Nations inhabitants of Oceania may make them more susceptible to infectious diseases like influenza, according to a new study by scientists at the University of Colorado Anschutz Medical Campus.

30 Oct 2024

The Dangers of Zoonotic Diseases

According to a recent study published in Nature, mice and ferrets infected in a high-containment laboratory setting died from a highly pathogenic avian influenza (HPAI) H5N1 virus that was isolated from the eye of a farm worker who contracted the virus from contact with dairy cows.

29 Oct 2024

Study Reveals Impact of Genetic Mutations on Protein Localization

The team developed a high-throughput imaging platform to assess the influence of nearly 3,500 mutations on protein location. They found that roughly one in six disease-causing mutations led to proteins ending up in the wrong location in the cell.

28 Oct 2024

Simple Neural Circuit Controls Chewing and Appetite

Speaking, singing, coughing, laughing, yelling, yawning, chewing-;we use our jaws for many purposes. Each action requires a complex coordination of muscles whose activity is managed by neurons in the brain.

24 Oct 2024

Personalized Mini-Brains Provide Insight into Autism Spectrum Disorder

Using stem cells generated from patients with a rare and severe form of autism spectrum disorder and intellectual disability, Scripps Research scientists have grown personalized "mini-brains" (or organoids) to study the disorder in new detail.

24 Oct 2024

DeepUrfold: A New AI Model Uncovers Hidden Protein Relationships and Redefines Fold Space

This study introduces DeepUrfold, a deep learning model that uncovers subtle structural links between proteins, advancing the field of protein evolution.

21 Oct 2024

Mutant Neurons Show Accelerated Development in Mouse Brain

The mechanisms behind intellectual disabilities and autism remain largely unknown. However, researchers from the labs of Prof. Pierre Vanderhaeghen and Prof. Vincent Bonin at the VIB-KU Leuven Center for Brain & Disease Research and NERF have identified that mutations in the SYNGAP1 gene interfere with the extended development of human neurons, a process believed to be critical for normal cognitive function.

15 Oct 2024

Unveiling a New Cellular Phase for Protein Compartmentalization

Classical mixture theory, which takes into account the percentage corresponding to each constituent as well as the interactions among constituents, can be used to model a system made up of two substances in physics.

14 Oct 2024