The Field of Medical Genetics frequently uses confusing terms unfamiliar to most people
Genetics for Wellness is a one of a kind Medical Service that uses genetic analysis apps to search your entire DNA code looking for genes that may be adversely impacting your current health and to identify genes that might put you at risk for future disease development. With the guidance of a Medical Doctor, this information can be coherently unpacked and used to formulate specific interventions to optimize your health. Doctors who use genetic testing in their medical practices can recommend dietary supplements scientifically, based on your specific needs, rather than providing traditional "one size fits all" general wellness recommendations.
Most Primary Care Physicians (PCPs) see 20-30 patients a day, some see even more. They do this out of necessity to earn enough to pay for the costs of running their business and to pay themselves a reasonable salary. Most PCPs have about 10 minutes for each follow-up patient and this is simply not enough time to interpret and explain the complexities of genetic testing. Unfortunately, most doctors receive only minimal "basic training" on genetics-topics in Medical School and consequently, they may not feel qualified to accurately explain genetic testing results. The goal of every Medical Insurance Company is to providing you with the bare essentials of Healthcare with the least cost to themselves. There is no special provisions in any medical insurance policy for paying doctors extra when they give you special time or attention. With a Concierge Doctor, you are paying them for something you can't typically get from your PCP, extended interaction-time and "special" attention.
A gene is linear arrangement of 4 different types of DNA building blocks called nucleotides. The specific order of the nucleotides is an instructional blue print (A genetic code) that directs other cellular constituents on how to accomplish specific tasks. Each human carries about 30,000 different genes. Most genes function to support a cell's growth, reproduction and survival. Some genes coordinate cell to cell interactions. Other genes turn on-and-off the protein-making genes. The term "Genome" is used to describe the compilation of all your genes and also includes non-coding DNA areas with largely unknown function.
Some genes contain the instructions needed to make a protein. The DNA code is copied to a messenger RNA molecule (mRNA) that is then used to by the cell to direct protein construction. Proteins either contribute to the structural integrity of a cell or participate in some other necessary cellular function. Some regulatory genes do not make protein, but function to control when the protein-making genes are turned on, or turned off.
When a human cell divides (reproduces), it must copy in an exact order the 3.2 billion nucleotides in your genome. If a copying error occurs, and it is not corrected by protective DNA editing proteins, then a permanent DNA change or "mutation" is created. If a mutation occurs in one of the "somatic" cells that form our body tissues, then it is not passed on to our offspring. If a mutation occurs in our sex cells (sperm and eggs), then it can be passed on to our children (Called a "germ-line" mutation). A somatic mutation typically has minimal effect on an organism because it affects only a single tissue cell and the limited population of its daughter cells. However, if a sperm or egg carries a mutation, when their DNA combine to form a new organism, the mutation is propagated into every cell of the offspring.
The DNA code creates a protein by first creating a messenger RNA (mRNA) that can move out of the cell's nucleus and binding to a protein-making ribosome. If the DNA code is changed, then the mRNA code is also changed, and this can affect a protein's composition. Proteins are constructed from 20 different types of amino acids and each has unique chemical properties. Amino acids are carried to the protein assembly sites (Ribosomes) bound to transfer-RNAs (tRNAs). Each tRNA, contains a specific nucleotide code that determines the type of amino acid it carries. During protein synthesis, the nucleotides, built into the transfer-RNAs, bind to complementary mRNA codes. A protein come off a Ribosome as linear strands however, as it is created, the different amino acids interact with each other, pulling and folding the linear protein into a 3-dimentional functional structure. If a DNA mutation causes a change to occur in even one amino acid of a protein, the protein may not fold correctly. Some amino acid substitutions have little or no effect on a protein's structure or function however, if the structure is significantly altered, the protein may have a diminished functional ability or be unable to accomplish its primary task or purpose. Occasionally, a DNA mutation creates a totally "new" protein that performs a different action or functions better than the normal protein, this is called a "gain of function " mutation. Sometimes mutations occur in regulatory genes and this can have devastating affects by inappropriately altering protein production patterns.
Over the past millions of years, every gene we have has accumulated numerous mutations. If a mutation created a survival advantage for an organism, then it was carried forward by successful breeding into the "gene pool". Conversely, if a gene adversely affected the chance for an individual organism to successfully reproduce, then it was lost from the species gene pool. This process of preserving some genes and eliminating others is called "natural selection". Some genetic variations (mutant genes) perform their specified tasks better or worse than other variations. If a gene variation has no significant effect on an organism's survival, it is considered a neutral mutations. Genes that control eye or hair color would be considered neutral variants. The scientific term for a variant of any gene is "Allele". Every gene in your body exists as an allelic pair, one allele came from your mother and one from your father. Alleles may only differ from each other by one or two small genetic code changes. When these 2 alleles interact, one gene can exert an negative influence over the function of the other. When we describe how a pair of gene Alleles function together in a cell, the term "gene expression" is used..
Whole Genome Sequencing detects both maternal and parental variants (Alleles) for each gene in your genome. A gene's function or "expression" is determined by the interaction of both Alleles but also by the functional capability of each separate allele. When both Allelic variations are specifically identified, this defines the organisms "genotype". If the genotype results in an observable or quantifiable physical change in an organism, this manifestation is called a "phenotype". Most rare genetic diseases are diagnosed by a physician who recognizes a specific phenotype produced by a genetic variation. As an example, person's with Down's Syndrome can typically be recognized by their eyelid phenotype.
A pair of gene alleles can interact in 3 distinct ways; If allele #1 has a more pronounced inhibitory effect over Allele #2, then allele #1 it is termed "A dominant allele". The non-dominant allele #2 is called a "recessive" allele. At times, the alleles may have minimal or no effect on each other and when both alleles are capable of full independent function; these alleles are called co-dominant.
If a gene variant (allele) creates a problem for the organism, then it is termed a disease-causing mutation. If a "Bad" allele is dominant in its expression when paired with a normal allele, then it will cause an adverse outcome in every offspring who inherits it. If a "bad" allele is a recessive gene variant, then it will not cause a disease in the presence of a normal allele. A recessive "Bad" allele can only cause a disease when it is inherited with another "Bad" recessive allele. In this situation, the appropriate adage holds true: "two wrongs don't make a right".
Copyright © 2023 Genetics for Wellness - All Rights Reserved. Adrianne D. Vaughn MD
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