Nucleic acids, best-known as DNA and RNA, are often termed "the building blocks of life." These building blocks are found in the nuclei of cells and help proteins to be built, help cells to replicate, govern heredity and the cell's chemical processes. Nucleic acids are made up of five pieces, or monomers, including:
These acids are the storers and transmitters of cellular information in the body.
While nucleic acids can do so much good for the body, mutation can result in debilitating or life threatening diseases. There is a long list of genetics conditions caused by mutations involving nucleic acids. Some of the more prominent conditions caused by mutations of nucleic acids like DNA and RNA include:
Some DNA mutations in mitochondria have been linked to diseases of the heart and muscles. When there is damage to the mitochondrial DNA, tissues and organs can begin to deteriorate causing painful and sometimes fatal conditions.
Mutations of the genes BRCA1 and BRCA2 have been linked to causing breast cancer. This determination, in the 1990’s, has lead to increased research regarding these genes and their mutations in an effort to reduce the risk of acquiring breast cancer.
The same genes that were determined to cause breast cancer upon mutation have also been linked to ovarian cancer. Researchers are still working to determine how these mutations happen and how to prevent them.
Alzheimer’s Disease is another disease caused by mutation of genes in one’s DNA. Presenilin-1, Presenilin-2, and APP are three genes that are known to contribute to the onset of Alzheimer’s. Further, the hereditary nature of Alzheimer’s had lead researchers to study the genes that must be inherited in order to develop the disease. If a mutated gene is inherited, the likelihood of acquiring Alzheimer’s by the age of 65 is very high.
Down Syndrome is another condition that is caused by a mutation of a gene in the DNA. In the past several decades, great strides have been made in medicine in understanding and diagnosing Down Syndrome.
Cystic Fibrosis is an inherited disease that affects the secretory glands that are responsible for producing mucus and sweat. Cystic Fibrosis can affect the pancreas, the lungs, intestines, sinuses and even sex organs. With research, the prognosis for those with Cystic Fibrosis is improving, but a much decreased life expectancy is very common.
While certainly not as debilitating as some other genetic diseases, color blindness is also a result of mutation of genes on DNA. This condition is more prevalent in men and exists when one is unable to distinguish between colors or to see colors in typical lighting.
Cri du Chat is another disorder resulting from genetic mutation. When Chromosome 5 is missing, this condition is acquired. Babies with the disorder often have a cry that sounds like a cat. Additionally, they may have intellectual disabilities, developmental delays, and facial/head features that differ from typical placement (such as low set ears or wide set eyes).
This genetic disease affects children most often. Infantile Tay-Sachs Disease generally commences around 6 months old, culminating in fatality by the age of four while juvenile Tay-Sachs disease starts between the ages of 2 and 10 with death occurring most often by age 15. Rarely, adult onset Tay-Sachs will begin in one’s 30’s or 40’s; but, many times it is not fatal. After the disease becomes present, nerve functions deteriorate as do cognitive abilities. Blindness, deafness and motor skill changes, including the reduced ability to swallow can all occur. In adults, psychological issues can be pronounced.
Now you have seen what nucleic acids are and how they affect your body.