Our life is full of initials and codes. There is not a day that you do not interact with a code of some sort like a bar code or a QR code. Think of all the initials that now mean something to us like CCTV or DNA. We rarely think that life, as we know it, is thousands and thousands codes. These codes are in genes. Humans are thought to have 20,000 to 30,000 genes.
Understanding genes and their roles is fundamental to many fields, including medicine, biology, and biotechnology, as they influence health, behavior, and the diversity of life. Genes are found on tiny spaghetti-like structures called chromosomes that are found in the nucleus. Each of the 20-30,000 genes has special jobs to do. The DNA strands are arranged in the genes to spell out instructions to construct various jobs such as to make a particular protein. The DNA in a gene spells out specific instructions, like a cookbook recipe, to make proteins. Scientists estimate that each gene in the body may make as many as 10 different proteins. That’s more than 300,000 proteins.
Humans have 23 pairs of chromosomes with one set inherited from each parent. The genes, as a consequence, come in pairs, one from each parent. Many factors can influence the messages and the interactions of genes with other genes such as the environment or drugs. Mutations, or changes in the DNA sequence of a gene, can lead to variations in traits (eye color) or sometimes genetic disorders. These mutations play a role in evolution when changes in DNA (message or code) material can lead to new traits that may be advantages for survival.
Historically when a physician noted patterns in malformations that pattern was named after them. So we had names like Down syndrome. Today it is known that the characteristics of Down syndrome is caused by an extra chromosomes. That is relatively easy. You can see the extra chromosome. The progress in understanding how genes work has been phenomenal. Scientists are working to understand not only where the gene is but what protein they make and what its function is. There are thousands of proteins each with a long name so they usually go by the initials in their name. Now instead of cystic fibrosis you might see CFTR which is a gene mutation cystic fibrosis transmembrane conductance regulator. Another abbreviation more familiar to some is BRCA1 and BRCA2 which stand for the gene mutations of 185delAG for BRCA1. This mutation is associated with breast cancer.
The knowledge about the various gene mutations are helpful in that it can be known what complications others have with the same mutation or possible solutions can be found. Every cell in the body is full of coded messages and it is a miracle that the majority have the correct code. Mutations after birth can happen because of environment exposures such as radiation, chemicals, ultraviolet light or biologic processes such as inflammation and aging.
Please be safe.
Sally Robinson MD
Jan 2025
Have a healthy, happy New Year.