Holistic:(Webster dictionary):Full Definition of HOLISTIC
: of or relating to holism
: relating to or concerned with wholes or with complete systems rather than with the analysis of, treatment of, or dissection into parts
IgG:(Wikipedia):Immunoglobulin G (IgG) is an antibody isotype. It is a protein complex composed of four peptide chains — two identical heavy chains and two identical light chains arranged in a Y-shape typical of antibody monomers. Each IgG has two antigen binding sites. Representing approximately 75% of serum immunoglobulins in humans, IgG is the most abundant antibody isotype found in the circulation. IgG molecules are synthesized and secreted by plasma B cells.
MCAS: Mast Cell Activation Syndrome
Mast Cells:(Encyclopedia Britannica) mast cell, tissue cell of the immune system of vertebrate animals. Mast cells mediate inflammatory responses such as hypersensitivity and allergic reactions. They are scattered throughout the connective tissues of the body, especially beneath the surface of the skin, near blood vessels and lymphatic vessels, within nerves, throughout the respiratory system, and in the digestive and urinary tracts. Mast cells store a number of different chemical mediators—including histamine, interleukins, proteoglycans (e.g., heparin), and various enzymes—in coarse granules found throughout the cytoplasm of the cell. Upon stimulation by an allergen, the mast cells release the contents of their granules (a process called degranulation) into the surrounding tissues. The chemical mediators produce local responses characteristic of an allergic reaction, such as increased permeability of blood vessels (i.e., inflammation and swelling), contraction of smooth muscles (e.g., bronchial muscles), and increased mucus production.
Degranulation:(Wikipedia):Degranulation is a cellular process that releases antimicrobial cytotoxic molecules from secretory vesicles called granules found inside some cells. It is used by several different cells involved in the immune system, including granulocytes (neutrophils, basophils and eosinophils) and mast cells. It is also used by certain lymphocytes such as natural killer (NK) cells and cytotoxic T cells, whose main purpose is to destroy invading microorganisms.
DNA Methylation:(Wikipedia)DNA methylation is a biochemical process involving the addition of a methyl group to the cytosine or adenine DNA nucleotides. DNA methylation stably alters the expression of genes in cells as cells divide and differentiate from embryonic stem cells into specific tissues. The resulting change is normally permanent and unidirectional, preventing one organism from reverting to a stem cell or converting into another type of tissue. DNA methylation is typically removed during zygote formation and re-established through successive cell divisions during development. However, the latest research shows that hydroxylation of methyl groups occurs rather than complete removal of methyl groups in zygote. Some methylation modifications that regulate gene expression are inheritable and cause genomic imprinting.
In addition, DNA methylation suppresses the expression of endogenous retroviral genes and other harmful stretches of DNA that have been incorporated into the genome of the host over time. DNA methylation also forms the basis of chromatin structure, which enables a single cell to grow into multiple organs or perform multiple functions. DNA methylation also plays a crucial role in the development of nearly all types of cancer.
DNA methylation at the 5 position of cytosine has the specific effect of reducing gene expression and has been found in every vertebrate examined. In adult somatic cells (cells in the body, not used for reproduction), DNA methylation typically occurs in a CpG dinucleotide context; non-CpG methylation is prevalent in embryonic stem cells, and has also been indicated in neural development.
MTHFR:(Genetics Home Reference)Reviewed July 2011
What is the official name of the MTHFR gene?
The official name of this gene is “methylenetetrahydrofolate reductase (NAD(P)H).”
MTHFR is the gene's official symbol. The MTHFR gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the MTHFR gene?
The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is important for a chemical reaction involving forms of the B-vitamin folate (also called folic acid or vitamin B9). Specifically, this enzyme converts 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. This reaction is required for the multistep process that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.
How are changes in the MTHFR gene related to health conditions?
homocystinuria - caused by mutations in the MTHFR gene
At least 40 mutations in the MTHFR gene have been identified in people with homocystinuria. Most of these mutations change single amino acids in methylenetetrahydrofolate reductase. These changes impair the function of the enzyme, and some cause the enzyme to be turned off (inactivated). Other mutations lead to the production of an abnormally small, nonfunctional version of the enzyme. Without functional methylenetetrahydrofolate reductase, homocysteine cannot be converted to methionine. As a result, homocysteine builds up in the bloodstream, and the amount of methionine is reduced. Some of the excess homocysteine is excreted in urine. Researchers have not determined how altered levels of homocysteine and methionine lead to the health problems associated with homocystinuria.
anencephaly - associated with the MTHFR gene
Several variations (polymorphisms) in the MTHFR gene have been associated with an increased risk of neural tube defects (NTDs), a group of birth defects that occur during the development of the brain and spinal cord. Anencephaly is one of the most common types of neural tube defect. Affected individuals are missing large parts of the brain and have missing or incompletely formed skull bones.
The most well-studied polymorphism related to the risk of neural tube defects changes a single DNA building block (nucleotide) in the MTHFR gene. Specifically, it replaces the nucleotide cytosine with the nucleotide thymine at position 677 (written as 677C>T). This variant, which is relatively common in many populations worldwide, produces a form of methylenetetrahydrofolate reductase that has reduced activity at higher temperatures (thermolabile). People with the thermolabile form of the enzyme have increased levels of homocysteine in their blood.
It is unclear how variations in the MTHFR gene increase the likelihood of neural tube defects. However, the increased risk may be related to differences in the ability of methylenetetrahydrofolate reductase to process folate. A shortage of this vitamin is an established risk factor for neural tube defects.
spina bifida - associated with the MTHFR gene
Polymorphisms in the MTHFR gene are also associated with an increased risk of spina bifida, another common type of neural tube defect. In people with this condition, the bones of the spinal column do not close completely around the developing nerves of the spinal cord. As a result, part of the spinal cord may stick out through an opening in the spine, leading to permanent nerve damage.
As described above, variations in the MTHFR gene may increase the risk of neural tube defects by changing the ability of methylenetetrahydrofolate reductase to process folate.
other disorders - increased risk from variations of the MTHFR gene
Polymorphisms in the MTHFR gene have also been studied as possible risk factors for a variety of common conditions. These include heart disease, stroke, high blood pressure (hypertension), high blood pressure during pregnancy (preeclampsia), an eye disorder called glaucoma, psychiatric disorders, and certain types of cancer. The 677C>T polymorphism in the MTHFR gene has also been suggested as a risk factor for cleft lip and palate, a birth defect in which there is a split in the upper lip and an opening in the roof of the mouth. Studies of MTHFR gene variations in people with these disorders have had mixed results, with associations found in some studies but not in others. Therefore, it remains unclear what role changes in the MTHFR gene play in determining the risk of these complex conditions.
Serum Sickness:(MedlinePlus):Serum sickness is a reaction that is similar to an allergy. The immune system reacts to medications that contain injected proteins used to treat immune conditions. Or it can react to antiserum, the liquid part of blood that contains antibodies given to a person to help protect them against germs or poisonous substances.
SubQ(Wikipedia):A subcutaneous injection is administered as a bolus into the subcutis, the layer of skin directly below the dermis and epidermis, collectively referred to as the cutis. Subcutaneous injections are highly effective in administering vaccines and medications such as insulin, morphine, diacetylmorphine and goserelin. Subcutaneous, as opposed to intravenous, injection of recreational drugs is referred to as "skin popping." Subcutaneous administration may be abbreviated as SC, SQ, sub-cu, sub-Q or subcut. Subcut is the preferred abbreviation for patient safety.