Chromosomes are the thread-like structures in cells that contain genes. We have 46 chromosomes, arranged in 2 sets of 23. Genes are in the DNA of each cell in our bodies. They control how the cell functions, including how quickly it grows, divides and lives. Genes control how our cells work by making proteins. The proteins have specific functions and act as messengers for the cell. Each gene must have the correct instructions for making its protein. This allows the protein to perform the correct function.
Researchers estimate that each cell contains 30,000 different genes.
A gene mutation is a permanent alteration in the DNA sequence that makes up a gene, such that the sequence differs from what is found in most people. Mutations range in size; they can affect anywhere from a single DNA building block (base pair) to a large segment of a chromosome that includes multiple genes.
Gene mutations can be classified in two major ways:
- Hereditary mutations are inherited from a parent and are present throughout a person’s life in virtually every cell in the body. These mutations are also called germline mutations because they are present in the parent’s egg or sperm cells, which are also called germ cells. When an egg and a sperm cell unite, the resulting fertilized egg cell receives DNA from both parents. If this DNA has a mutation, the child that grows from the fertilized egg will have the mutation in each of his or her cells.
- Acquired (or somatic) mutations occur at some time during a person’s life and are present only in certain cells, not in every cell in the body. These changes can be caused by environmental factors such as ultraviolet radiation from the sun, or can occur if an error is made as DNA copies itself during cell division. Acquired mutations in somatic cells (cells other than sperm and egg cells) cannot be passed to the next generation.
Majority of breast cancer cases are not caused by inherited genetic factors. It’s estimated between only 5-10% of breast cancer cases are passed from mother or father to children. Most breast cancer cases are associated with somatic mutations in breast cells that are acquired during a person’s lifetime, and they do not cluster in families. The number one factor we can control in terms of preventing cancer is what we put in our mouths and on our bodies.
In hereditary breast cancer, the way that cancer risk is inherited depends on the gene involved. For example, mutations in BRCA1 and BRCA2 genes are inherited in an autosomal dominat pattern, which means one copy of the altered gene in each cell is sufficient to increase a person’s chance of developing cancer. Although breast cancer is more common in women than in men, the mutated gene can be inherited from either the mother or the father.
Most disease-causing gene mutations are uncommon in the general population. However, other genetic changes occur more frequently. Genetic alterations that occur in more than 1 percent of the population are called polymorphisms. They are common enough to be considered a normal variation in the DNA. Polymorphisms are responsible for many of the normal differences between people such as eye color, hair color, and blood type. Although many polymorphisms have no negative effects on a person’s health, some of these variations may influence the risk of developing certain disorders.
What is MTHFR?
Methylenetetrahydrofolate reductase is a gene mutation that, in a nutshell, prevents the cells in our bodies from methylating properly.
MTHFR mutations affect everyone differently, and symptoms can vary from long-term health issues to hardly any noticeable changes in overall health. Research has shown an association between MTHFR mutations and several health problems including:
- Vascular disease
- Neurological issues
- Coronary artery disease
- Neurol tube defects
- Congintal cardiac malformations
- Bipolar disorder
- ADHD (Attention Deficit Hyperactivity Disorder)
- Cardiovascular disease
This gene mutation can be found all over the world. It is estimated that, at least, 40% of the US population has this gene mutation. Unfortunately I do, and I’m here to tell you I’m passionate about it. I’ve lost grandparents to Alzheimer’s and I want to remember who my family and friends are until I die – let’s say at 103. I also lost my mom to breast cancer (who was unaware of the MTHFR within her body). It causes a methylation problem and every cell in our bodies must methylate properly to function. The types of food we eat and the supplements we (must) take is the armor we have to prevent/ control this mutation.
What is CD33?
CD33 mRNA expression is specifically increased in microglia, and expression in autopsy brain tissue is associated with more advanced cognitive decline. The amyloid-beta peptide (Aβ) cascade hypothesis predicates that Aβ accumulation is the fundamental initiator of Alzheimer’s disease (AD), and mounting evidence suggests that weakened Aβ clearance rather than its overproduction is the major cause of Alzheimer’s disease.
What is Apoe?
The APOE gene provides instructions for making a protein called apolipoprotein E. This protein combines with fats (lipids) in the body to form molecules called lipoproteins. Lipoproteins are responsible for packaging cholesterol and other fats and carrying them through the bloodstream. Maintaining normal levels of cholesterol is essential for the prevention of disorders that affect the heart and blood vessels (cardiovascular diseases), including heart attack and stroke.
There are at least three slightly different versions (alleles) of the APOE gene. The major alleles are called e2, e3, and e4. The most common allele is e3, which is found in more than half of the general population.
Researchers estimate that between 40 and 65 percent of people diagnosed with Alzheimer’s have the APOE gene mutation.
It’s a gene mutation that puts us at a higher risk for dementia, Alzheimer’s disease, and cardiovascular disease and I happen to have it. They estimate that 25% of the US population has this mutation. It’s particularly important to get tested for this if you have a family history of dementia/Alzheimers. Please don’t assume you will get it and there’s nothing you can do about it. It’s also important to know which allele you have. For example: I’ve been eating a low carb diet for about 2 years now. This is bad because years of research shows, based on my allele, I should be plant based. There are also natural supplements that help prevent the risks associated with the mutation.
For more information: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2908458/
Type 1 Diabetes
The risk of developing type 1 diabetes is increased by certain variants of the HLA-DQA1, HLA-DQB1, and HLA-DRB1 genes. These genes provide instructions for making proteins that play a critical role in the immune system.
The HLA-DQA1, HLA-DQB1, and HLA-DRB1 genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body’s own proteins from proteins made by foreign invaders such as viruses and bacteria.
To see more information about these gene mutations, see the blog section–> https://wellnessworkability.com/category/gene-mutations/