Q and A: about health and research

Brain-Derived Neurotrophic Factor (BDNF) is one of the most important proteins for maintaining brain health. Often referred to as "fertilizer for the brain," BDNF supports the growth, development, and maintenance of neurons, playing a key role in learning, memory, and mood regulation.  But like any critical system in the body, BDNF levels can be compromised by various factors, leading to cognitive decline, mood disorders, and increased susceptibility to neurodegenerative diseases. Understanding how BDNF functions and what affects its integrity can help us make better choices for our mental and cognitive well-being. What Is BDNF? BDNF is part of the neurotrophin family of growth factors, which are essential for the survival and plasticity of neurons—the cells responsible for transmitting information throughout the nervous system. It plays a key role in: Neurogenesis : Promoting the growth of new neurons, particularly in the hippocampus, the brain region associated with learnin...

Potassium imbalances —whether high (hyperkalemia) or low (hypokalemia) —can significantly disrupt the function of sodium channels , leading to muscle weakness or even paralysis . Since sodium channels are crucial for the initiation and propagation of electrical signals in muscle cells , any disturbance in potassium levels can interfere with normal muscle contraction . In this article, we'll explore how hyperkalemia and hypokalemia affect sodium channels, how to test for potassium imbalances , and what treatments are available to correct these issues and restore muscle function. 1. How Potassium Imbalance Affects Sodium Channels and Muscle Strength A. Hyperkalemia (High Potassium Levels) How It Affects Sodium Channels: Depolarizes Resting Membrane Potential: High potassium levels reduce the potassium gradient across the cell membrane, making the resting membrane potential less negative (closer to zero). Initial Over-Excitability, Then Inactivation: This slight depolarization ca...

Sodium channels are essential for the electrical signaling that underpins a wide range of physiological processes, from nerve impulses to muscle contractions. Blocking these channels can lead to both therapeutic benefits and adverse consequences, depending on the specific type of sodium channel involved and the extent of the blockade. This article explores the dual nature of sodium channel blockade, highlighting its applications in medicine as well as the potential risks. What Are Sodium Channels and Where Are They Found? Sodium channels are specialized proteins embedded in cell membranes that allow sodium ions ( Na⁺ ) to flow into cells, triggering electrical signals. These channels are particularly important in neurons, muscle cells (both skeletal and cardiac), and certain epithelial tissues . They can be divided into voltage-gated sodium channels (responsible for action potentials) and epithelial sodium channels (ENaCs) , which regulate sodium balance and fluid homeostasis. Key So...

NASA’s Discovery: The Chemistry of Life in an Ancient Asteroid In a groundbreaking discovery, NASA scientists have confirmed that fragments from asteroid Bennu contain the essential building blocks of life, including all five nucleobases that form DNA and RNA and 14 of the 20 amino acids found in proteins . This finding, revealed after researchers carefully opened a sealed canister containing Bennu’s material under inert gas conditions to prevent contamination , strengthens the idea that life's raw ingredients may have arrived on Earth from space. However, Bennu’s amino acids hold a surprising twist: unlike life on Earth, which predominantly uses left-handed (L) amino acids, the asteroid’s amino acids exist in nearly equal amounts of left- and right-handed (D) forms . This unexpected balance challenges long-standing theories that asteroids like Bennu may have played a direct role in shaping Earth’s biochemistry. The Mystery of Life’s Handedness Chirality: The Left-Handed Bias of L...

Introduction What determines whether someone is deeply empathetic or utterly devoid of compassion? The answer lies in the prefrontal cortex, amygdala, and genetics , particularly the MAOA gene . Consciousness, empathy, and moral decision-making all rely on a healthy limbic system and its connection to higher-order brain functions. However, not everyone is born with a fully functional amygdala, hippocampal cortex, or prefrontal cortex —deficiencies that can go unnoticed for years. Research suggests that genetics, epigenetics, and brain structure significantly shape emotional regulation. Some individuals struggle to balance their emotions, while others lack emotional depth altogether. Yet, such people are often perceived as normal—or even brilliant. This article explores the neuroscience behind empathy and psychopathy , delving into how brain function (or dysfunction) influences behavior. The Role of the Prefrontal Cortex in Empathy and Psychopathy The prefrontal cortex (PFC) is the co...

Williams Syndrome (WS) is a rare genetic condition that is characterized by a distinct behavioral profile , combining strong social tendencies, high empathy, anxiety, and cognitive challenges . People with WS have outgoing personalities, a love for music, and a deep emotional sensitivity , but they also face challenges such as anxiety, impulsivity, and difficulties with peer relationships. Let’s take a closer look at the behavioral characteristics of individuals with Williams Syndrome. 1. Highly Social and Friendly Personality ("Hypersociability") One of the most well-known traits of WS is hypersociability —individuals with WS are incredibly friendly, talkative, and engaging. They often have no fear of strangers and may approach and interact with new people easily, earning the nickname "cocktail party personality." Key Features: ✔ Warm and engaging with almost everyone they meet. ✔ Show high levels of empathy and affection. ✔ Often seek physical contact (e.g., ...

I am often asked why I keep trying to change a society that seems beyond saving. Having experienced childhood trauma, some of my genes became methylated while others did not. As a result, my brain developed a highly active amygdala—an internal alarm that sounds whenever I witness harm to a child or a helpless person. When this happens, my amygdala signals my ventromedial prefrontal cortex (vmPFC), triggering empathy rather than the dorsolateral prefrontal cortex (dlPFC), which is more associated with manipulation, strategy, and emotional detachment. In other words, I was spared from becoming a psychopath; the MAOA gene does not control my life. This deep sense of empathy compels me to raise awareness and help prevent unnecessary suffering. © 2000-2025 Sieglinde W. Alexander. All writings by Sieglinde W. Alexander have a fife year copy right. Library of Congress Card Number: LCN 00-192742 ISBN: 0-9703195-0-9

  Introduction Thoracic outlet syndrome (TOS), dysferlinopathy, and myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) are distinct conditions that share some overlapping clinical features. These features, including fatigue, arm heaviness, and difficulties with overhead activities, may lead to diagnostic challenges. While each condition has unique pathophysiologic mechanisms, understanding their interplay is critical for proper diagnosis and treatment, particularly when symptoms mimic or exacerbate one another. This article explores the connections between these conditions, focusing on TOS-like symptoms in dysferlinopathy and systemic fatigue provoked during diagnostic maneuvers in ME/CFS. Thoracic Outlet Syndrome (TOS) TOS is caused by compression of the brachial plexus, subclavian artery, or subclavian vein as they pass through the thoracic outlet. It presents with a variety of symptoms depending on the structures involved, including: Neurologic symptoms (e.g., paresthes...

A detailed explanation to COVID-19 related epigenetic changes and atopic dermatitis The COVID-19 pandemic has unveiled complex interactions between viral infections, immune responses, and pre-existing conditions such as atopic dermatitis (AD). Beyond viral pathogenesis, emerging research highlights the interplay of epigenetic changes and genetic factors in influencing disease severity and individual susceptibility. Genes like LMAN2 , pseudogenes such as RPS20P17 , and single nucleotide polymorphisms (SNPs) like rs9313758 have become focal points for understanding how COVID-19 exacerbates inflammatory diseases, including atopic dermatitis. LMAN2: A Glycoprotein Regulator in Viral and Immune Pathways LMAN2 encodes a mannose-binding lectin protein that plays a vital role in the transport and quality control of glycoproteins in the endoplasmic reticulum (ER) and Golgi apparatus. This gene has implications for immune regulation and cellular stress, both of which are critical in COVID-19...

Article: Antiphospholipid Antibodies and COVID-19: A Systematic Review of Clinical Implications https://onlinelibrary.wiley.com/doi/10.1002/iid3.70134 Gist: This systematic review examines the link between antiphospholipid antibodies (aPL) and COVID-19, analyzing 59 studies with 28,489 patients. Over half (50.84%) of COVID-19 patients tested positive for aPL, with a 38.55% prevalence in those with thrombosis. The findings suggest a potential role of aPL in COVID-19-related thrombotic events, highlighting the need for further research to understand clinical implications and improve management strategies. Limitations include variability in study designs and methodologies, emphasizing the need for standardized approaches in future studies. APS is diagnosed based on a combination of clinical criteria (symptoms or events like thrombosis or pregnancy complications) and laboratory findings (specific antibodies). Diagnosis of APS 1. Clinical Criteria: Thrombosis: At least one documented epis...

Dysferlinopathy is a group of rare genetic muscle disorders caused by mutations in the DYSF gene , which encodes the protein dysferlin . This protein plays a critical role in the repair of damaged muscle cell membranes. When dysferlin is defective or absent, as in dysferlinopathy, muscle cells cannot efficiently repair themselves after damage, leading to progressive muscle weakness and degeneration. While there is no cure for dysferlinopathy, managing symptoms and maintaining muscle health is crucial. Nutritional factors, particularly calcium , vitamin D , and magnesium , play important roles in muscle function and overall health. Although these nutrients cannot directly address the genetic defect in dysferlinopathy, they can support muscle health and may mitigate some secondary complications. What Is Dysferlinopathy? Dysferlinopathy encompasses conditions such as: Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B): Weakness primarily in the hip and shoulder girdles. Miyoshi Myopathy: W...

DYSF-related disorders are a group of rare genetic conditions caused by mutations in the DYSF (dysferlin) gene. This gene encodes dysferlin, a protein essential for repairing damaged muscle fibers. When dysferlin function is impaired, muscles progressively weaken and degenerate, leading to conditions collectively known as dysferlinopathies . These include Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B) and Miyoshi Myopathy (MM) . Though these disorders share a genetic cause, their clinical presentations vary, making early diagnosis a challenge. Clinical Symptoms of Dysferlinopathies The hallmark of DYSF-related disorders is progressive muscle weakness , but the onset, pattern, and severity of symptoms depend on the specific type of dysferlinopathy. 1. Progressive Muscle Weakness Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B): Weakness begins in the proximal muscles , especially those around the hips and shoulders. Patients may struggle with tasks like climbing stairs, standing u...

Reference links shared on this blog may become inaccessible soon, as the new 2025 U.S. administration is reportedly considering halting the public release of federal health data. According to a recent Reuters article, the administration may suspend public reporting of health data from federal agencies like the FDA, CDC, and DHS. Pelizaeus-Merzbacher Syndrome (PMS) is a rare, inherited demyelinating disorder , primarily affecting infants and children. While PMS is most commonly discussed in the realm of pediatric leukodystrophies, understanding it in the broader context of demyelinating disorders—such as multiple sclerosis (MS) , transverse myelitis , and even white matter conditions affecting adults—reveals its broader neurological implications. Exploring this syndrome through the lens of a prototypic adult's perspective sheds light on how white matter diseases influence the nervous system at all ages and across a spectrum of conditions. What is Demyelination? Demyelination refers...

Solve-RD (Solving the Unsolved Rare Diseases) is a groundbreaking European research initiative funded by the European Union under the Horizon 2020 program . This ambitious project aims to transform the diagnosis of unsolved rare diseases by utilizing advanced genomics, cutting-edge technologies, and the collective expertise of scientists and clinicians from across Europe. Rare diseases, though individually uncommon, affect millions of people worldwide and often remain undiagnosed due to their complexity. Solve-RD is determined to change this. A Collaborative Force At its core, Solve-RD is a collaborative effort. The initiative involves over 300 clinicians, laboratory geneticists, and translational researchers from 43 research groups associated with 37 institutes across 12 European countries and Canada . Together, these experts are pooling their resources and knowledge to tackle the challenge of rare diseases that have defied previous diagnostic efforts. The scale of the initiative...