Q and A: about health and research

Today, I understand why Spinal Muscular Atrophy (SMA) received little attention, particularly in the mid-50s. This complex and debilitating genetic illness was poorly understood, and patients' symptoms were often minimized or even dismissed. For more information, please visit the Spinal Muscular Atrophy (SMA) page on MalaCards . Even now, many neurologists lack detailed knowledge of SMA, and comprehensive examinations mentioned in research are rarely pursued. In 2008, while investigating permanent adrenal insufficiency, an MRI ordered by my endocrinologist unexpectedly revealed Chiari Malformation II. However, surgery in 2009 brought no improvement. In 2010, a DNA test showed a genetic marker in the ACTN3 gene: https://www.malacards.org/search/results?q=ACTN3%20gene%20and%20Spinal%20Muscular%20Atrophy%20(SMA) A 2015 MRI revealed ankylosing spondylitis, multiple Tarlov cysts, stenosis at L4 and L5, spinal canal narrowing, and widespread degenerative changes. Surgery on L4 and L5 ...

Genetic mutations that cause hereditary diseases usually affect the composition of the transcribed mRNA and its encoded protein, leading to instability of the mRNA and/or the protein. Sometimes, however, such mutations affect the synthesis, the processing or the translation of the mRNA, with similar disastrous effects. Genetic mutations that lead to hereditary diseases typically occur in DNA, not in mRNA. However, the effects of these DNA mutations are often observed in the mRNA and the proteins they encode. Here's how this works: Location of Mutations DNA Mutations : Hereditary mutations are changes in the DNA sequence. These mutations can be inherited from parents or occur during life due to various factors like environmental influences or errors during cell division. mRNA : mRNA is a copy of the DNA sequence used for protein synthesis. It doesn't undergo mutations itself; instead, it reflects the mutations that have occurred in the DNA. Effects of DNA Mutations on mRNA a...

 Emphasizing the distinct characteristics and uses of Simple Zinc, Carnosine, and Zinc-Carnosine: Simple Zinc Supplements: Composition: Contain elemental zinc, often as zinc sulfate, zinc acetate, or zinc gluconate. Usage: Essential for immune function, wound healing, DNA synthesis, cell division, and growth during key developmental stages. Absorption and Bioavailability: Can vary based on the compound and dietary factors, such as the presence of phytates in whole grains. Health Benefits: Boosts the immune system, treats zinc deficiencies, shortens common cold duration, and is used in topical treatments for skin irritations and dandruff. Carnosine: Role in the Body: A dipeptide composed of beta-alanine and histidine, found in muscles and brain tissue. It's a protein building block and is essential for numerous body functions. Functions: Acts as an antioxidant, scavenging reactive oxygen species and alpha-beta unsaturated aldehydes. It opposes glycation and can chelate divalen...

The Role of the Lymphatic and Glymphatic Systems in Chronic Inflammation and Neurodegeneration The lymphatic system functions as the body’s primary filtration and immune transport network against viral, bacterial, and fungal invasion. When either the lymphatic or glymphatic systems malfunction, chronic inflammation becomes increasingly difficult to control. At present, lymph nodes remain the body’s main biological filtration structures. If science cannot develop more effective “bait, capture, destroy, and remove” mechanisms for pathogens and inflammatory debris, the long-term battle against chronic inflammation may remain unresolved. Key Questions Several important questions remain insufficiently addressed: How can spike proteins or other pathogenic particles enter the limbic system, which is not directly supplied by red blood cells (RBCs) in the same manner as peripheral tissues? If lymphatic fluid (chyle) recirculates into cerebrospinal fluid (CSF), could harmful proteins or...