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protein molecules
dna strand
gene mutations
disease diabetes
high blood pressure
Genetic Disorders
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How do you define what a gene is? It is the segment from a DNA strand that carries the instructions for a specific function of an organism. Therefore, understanding gene function is vital to understanding disease. When an individual’s genome has caused abnormalities within the DNA, it is known as a genetic disorder. The role of a normal gene is encoding protein, not to create illnesses or harm the organism. Theses diseases arise when genes are unable to function properly. However, the body does not just create genetic disorders out of nowhere. These genetic disorders get there names from the disorder to which links them. There are four distinct kinds of genetics disorders: single-gene, multifactorial, chromosomal, and mitochondrial.

A single-gene disorder is caused when changes or mutations occurs in the DNA sequence of a gene. Since proteins lie within this gene, encoding for specific functions of the body, these protein molecules are fundamental building blocks to the genome. This is because the protein molecules carry out majority of the work and make up most of the cellular structures. When a mutation occurs in a gene, the protein product is no longer able to carry out the normal function thus resulting in a ‘single-gene disorder’. In about 1 of every 200 births, there are more than 6000 single-gene disorders that have been found. Some examples of single-gene disorder are: sickle cell anemia, cystic fibrosis, Huntington’s disease, and hereditary hemochromatosis.

The second genetic disorder, ‘multifactorial’ transpires with multiple gene mutations, and is often paired with environmental factors. Some common chronic multifactorial disorders are, but not limited to: heart disease, high blood pressure, Alzheimer’s disease, diabetes, cancer, and obesity. This disorder is a more complex disorder; this means that this disorder is a more difficult one to study and treat due to the specific factors causing it to occur. Although complex disorders often are passed down within families, it is not evidential that they have a definite pattern of inheritance. Again, this makes it difficult for scientists and researchers to determine a person’s risk of inheriting or passing on this disorder.

Chromosomes are structures made up of DNA and protein, found inside the nucleus of cells. They contain DNA-bound proteins created to serve in packaging DNA and control the functions of DNA. When disrupted with abnormalities, the chromosome will become a genetic disorder. Since chromosomes carry genetic material, an interruption such as a missing or extra copies cause diseases. An example of chromosomal disorder is Down syndrome. This disorder is caused when someone has a third copy of the chromosome 21 as opposed to the normal two. Trisomy 21, or Down syndrome, is usually caused by nondisjunction in the gametes prior to conception, and all cells in the body are affected (Wikipedia).

The last kind of genetic disorder is called mitochondrial. This disease is usually caused by mutations in the mitochondrial DNA; it can also be caused by genetics. When mutated, it affects the mitochondria function. Since the mitochondrion is the ‘powerhouse’ of the cell, energy generation is disoriented. When they fail, less energy is being produced within the cell and can cause cell injury and even cell death may follow. Mitochondrial disorder causes other cells in the body to repeat this process and soon the whole system begins to fail, thus leading to the life of a person to be severely compromised. This means that mitochondrial is a more complex disorder than the other three.


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