The outcomes of genetic mutation (sometimes called “gene variation”) are vast and varied. Scientific work towards understanding and influencing the mutation process is ongoing, and the potential implications for research, medicine, and society cannot be overstated.
Gene editing may one day revolutionize medical treatment, and without beneficial genetic mutations being passed down from the fittest organisms to their offspring in nature, evolution would not exist. Mutations in some genes, however, can make someone sick or leave them vulnerable to disease.
What Are Genetic Mutations and Why Do They Matter?
A genetic mutation is any permanent change in the DNA that makes up a gene. A single mutation may affect one or more nucleotides in a gene and alter an organism in countless ways, both visible and invisible.
Genetic changes passed down from generation to generation are the driving force behind evolution. Without genetic mutation, that first single-celled organism would never have developed into the dogs, cats, and people we know and love today. The genetic mutations that help an organism adapt to its environment get passed on through reproduction and, in theory, will make the overall population of that organism stronger, faster, smarter, and healthier from generation to generation.
With modern technology, and unique techniques like isothermal titration calorimetry that uncover all sorts of biomolecular interactions, scientists hope to be able to alter genetic material deliberately in an effort to fight diseases or create better-yielding crops.
Molecular Screening
One cutting-edge method of testing for genetic mutations in humans is molecular screening. Molecular screening can detect genetic variations with higher accuracy and less cost than previous methods.
With modern molecular screening, a patient’s entire genome can be studied at high resolution, allowing for the detection of issues that would have previously gone unseen. Scientists can zoom in on a single nucleotide with today’s sophisticated molecular screening equipment.
Molecular diagnosis is already becoming a core component at many state-of-the-art medical systems, and its use is expected to spread rapidly. The increased accessibility of molecular screening is expected to have major impacts on the diagnosis and treatment of diseases in the near future. However, currently, scientists and medical experts are still working out howto deploy these technologies bests and how to best review and interpret the immense amount of genomic data produced through molecular screening.
Potential Suppressors of Harmful Mutations
Tumor-suppressing genes are currently a particularly active field of study. It is believed that there are two distinct ways that genetic mutation can lead to cancer. One is the activation of cancerous cellular oncogenes, and the other is the inactivation of suppressor genes.
Research into tumor-suppressing genes and how they work has been ongoing since 1969. Better understanding these suppressor genes will help doctors diagnose and treat conditions. In fact, understanding genetic mutation and how it occurs may one day provide the answer to preventing certain types of cancer entirely.
Sources:
https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=85&contentid=p07205
https://www.nature.com/scitable/topicpage/tumor-suppressor-ts-genes-and-the-two-887/
https://www.ncbi.nlm.nih.gov/books/NBK9894/
https://medlineplus.gov/genetics/understanding/mutationsanddisorders/genemutation/