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Archive for the ‘genetics’ category: Page 65

Apr 23, 2023

Childhood abuse and biological sex linked to epigenetic changes in functional neurological disorder

Posted by in categories: biotech/medical, genetics, health, neuroscience, sex

Functional movement/conversion disorder (FMD), part of the spectrum of Functional Neurological Disorder (FND), is a neuropsychiatric condition marked by a range of neurological symptoms, including tremors, muscular spasms and cognitive difficulties. Despite being the second-most common cause of referrals to neurology outpatient clinics after headache, scientists have struggled to pin down the disorder’s root cause. Female sex and a history of childhood trauma are factors associated with higher risk of developing FMD, but it’s been unclear why.

A new study from investigators of the Brigham and Women’s Hospital, in collaboration with researchers at the National Institute of Neurological Disorders and Stroke, demonstrated that FMD is characterized by epigenetic changes, and that women and childhood abuse survivors with FMD have different epigenetic profiles linked to this condition. Their study, which examined the genomes of over 100 individuals and was recently published in Progress in Neuro-Psychopharmacology and Biological Psychiatry, is the first to demonstrate the occurrence of epigenetic changes in FMD.

“This study finally takes FMD out of a cloud of confusion and provides a neuroscientifically grounded explanation for why childhood trauma and female sex are associated with this disorder,” said lead author Primavera A. Spagnolo, MD, Ph.D., scientific director of the Mary Horrigan Connors Center for Women’s Health and Gender Biology and assistant professor of psychiatry at HMS.

Apr 23, 2023

Epigenetic Test #5: Impact of NMN?

Posted by in categories: biotech/medical, genetics

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Apr 21, 2023

Scientists discover how X chromosome gets its shape, solving one of life’s greatest mysteries

Posted by in categories: biotech/medical, genetics

Scientists in Britain have finally solved one of the greatest mysteries of life: how chromosomes get their X shape. Chromosomes, discovered in the late 1800s, are DNA molecules which contain the genetic material of an organism.

All chromosomes, without exception, either go through or end up with an X shape before the cells of an organism divide.

But it was always a mystery how they are X-shaped. While Biology students across the world study that chromosomes get their shape during cell division, the exact reason behind their X shape was not known.

Apr 20, 2023

Dr. Oded Rechavi: Genes & the Inheritance of Memories Across Generations | Huberman Lab Podcast

Posted by in categories: biological, evolution, genetics, neuroscience

In this episode, my guest is Oded Rechavi, Ph.D., professor of neurobiology at Tel Aviv University and expert in how genes are inherited, how experiences shape genes and remarkably, how some memories of experiences can be passed via genes to offspring. We discuss his research challenging long-held tenets of genetic inheritance and the relevance of those findings to understanding key biological and psychological processes including metabolism, stress and trauma. He describes the history of the scientific exploration of the “heritability of acquired traits” and how epigenetics and RNA biology can account for some of the passage of certain experience-based memories. He discusses the importance of model organisms in scientific research and describes his work on how stressors and memories can be passed through small RNA molecules to multiple generations of offspring in ways that meaningfully affect their behavior. Nature vs. nurture is a commonly debated theme; Dr. Rechavi’s work represents a fundamental shift in our understanding of that debate, as well as genetic inheritance, brain function and evolution.

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Apr 18, 2023

Every base everywhere all at once: pangenomics comes of age

Posted by in categories: biotech/medical, genetics

Multi-genome assemblies called pangenomes can capture genetic diversity in a species, but researchers are still working out how best to build and explore them.

Apr 17, 2023

How do Viruses Reproduce?

Posted by in categories: biotech/medical, education, genetics

https://youtube.com/watch?v=QHHrph7zDLw&feature=share

How do viruses make more copies of themselves? They do this by taking over human cells. When a virus infects a cell, it hijacks the protein-making machinery of the cell by releasing its own genetic code, or instructions, into the cell. Now, instead of making proteins for the body, the cell starts working for the virus, helping it replicate. The cell makes more and more virus particles that are released to go on and infect more cells.

Play a Kahoot! trivia game based on this animation: http://www.vaccinemakers.org/trivia.

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Apr 16, 2023

Feng Zhang’s Delivery Platform Launched by Aera Therapeutics

Posted by in categories: biotech/medical, genetics

Finally got around to reading through the Feng Zhang laboratory’s amazing SEND (Selective Endogenous ENcapsidation for cellular Delivery) paper!

[Link: https://www.science.org/doi/10.1126/science.abg6155] The authors describe a new gene therapy delivery vehicle which leverages virus-like particles (VLPs) originally produced within human cells. These VLPs arise from ancient retroviral genomic fragments that were integrated into the human genome long ago and eventually were utilized to benefit our own physiology. Because they are recognized as ‘self’ by the immune system, the VLPs have potential as a novel gene therapy delivery modality. In this paper, Segel et al.


Aera’s strategy is to harness these proteins, and structures, to move the cargo of genetic medicines: RNAi, antisense RNA, mRNA, or a genetic editing payload, for example. To date, proteins and nucleic acids have been packaged. The company’s first goal is to move smaller nucleic acids like ASOs and siRNA from cell to cell.

Continue reading “Feng Zhang’s Delivery Platform Launched by Aera Therapeutics” »

Apr 16, 2023

Vitamin B6: Increase NAD Without NR, NMN, or Niacin?

Posted by in categories: biotech/medical, genetics

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Apr 15, 2023

A newly discovered pathway could prevent kidney failure in masses

Posted by in categories: biotech/medical, genetics

Researchers have recently made a groundbreaking discovery in the field of kidney disease. They have found a new pathway that could potentially prevent kidney failure in thousands of people. Dr. Carl May and his team at Bristol Medical School, with funding from Kidney Research UK, have discovered a new treatment pathway for non-genetic nephrotic syndrome.

This targets the unknown factor that leads to kidney failure. Nephrotic syndrome is a rare kidney condition that causes protein to leak into the urine, affecting around 10,000 people annually in the UK. The discovery offers hope for patients, especially children, who may develop kidney failure.

Researchers from Bristol Renal have identified a receptor called PAR-1 that works in conjunction with an unknown factor to cause kidney failure in patients with idiopathic nephrotic syndrome (INS). They found that anti-PAR-1 treatments could block the effect of the factor and prevent kidneys from failing, potentially making transplantation a more viable option for more patients.

Apr 15, 2023

Inhibition of Rho-kinase ameliorates decreased spine density in the medial prefrontal cortex and methamphetamine-induced cognitive dysfunction in mice carrying schizophrenia-associated mutations of the Arhgap10 gene

Posted by in categories: biotech/medical, genetics, neuroscience

Reversing schizophrenia with gene therapy year 2023.


Copy-number variations in the ARHGAP10 gene encoding Rho GTPase–activating protein 10 are associated with schizophrenia. Model mice (Arhgap10 S490P/NHEJ mice) that carry “double-hit” mutations in the Arhgap10 gene mimic the schizophrenia in a Japanese patient, exhibiting altered spine density, methamphetamine-induced cognitive dysfunction, and activation of RhoA/Rho-kinase signaling. However, it remains unclear whether the activation of RhoA/Rho-kinase signaling due to schizophrenia-associated Arhgap10 mutations causes the phenotypes of these model mice. Here, we investigated the effects of fasudil, a brain permeable Rho-kinase inhibitor, on altered spine density in the medial prefrontal cortex (mPFC) and on methamphetamine-induced cognitive impairment in a touchscreen‑based visual discrimination task in Arhgap10 S490P/NHEJ mice. Fasudil (20 mg/kg, intraperitoneal) suppressed the increased phosphorylation of myosin phosphatase–targeting subunit 1, a substrate of Rho-kinase, in the striatum and mPFC of Arhgap10 S490P/NHEJ mice. In addition, daily oral administration of fasudil (20 mg/kg/day) for 7 days ameliorated the reduced spine density of layer 2/3 pyramidal neurons in the mPFC. Moreover, fasudil (3–20 mg/kg, intraperitoneal) rescued the methamphetamine (0.3 mg/kg)-induced cognitive impairment of visual discrimination in Arhgap10 S490P/NHEJ mice. Our results suggest that Rho-kinase plays significant roles in the neuropathological changes in spine morphology and in the vulnerability of cognition to methamphetamine in mice with schizophrenia-associated Arhgap10 mutations.

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