New Way to Study Genetic Disease

Mani Samani | Team Member

In the realms of science, DNA is a constant subject to mutations. Mutations are a direct effect of a genetic material which is accidentally going to be altered in its code. When we look at mutations, we are told that the options are things like Charles Xavier, who can read minds, or Wolverine’s ability to heal himself. Despite the fantasy of being a superhero X, mutations in a more realistic world won’t cause these dramatic effects. Furthermore, mutations can lead to missing or malformed proteins, and that can lead to disease. However, recent UNBC research on genes has demonstrated new ways to study the reasons of these genetic disorders.

According to “RNA splicing: disease and therapy”, a paper published in Oxford Journals, many different human genetic diseases can be caused by errors in RNA splicing or its regulation. Gene splicing involves cutting out part of the DNA in a gene and adding new DNA in its place. The process is entirely chemical with restriction enzymes used. Depending on the type of restriction enzyme used, different parts of the genetic code can be targeted. A specific restriction enzyme will split apart a specific strand of DNA, leaving behind a gap in the genetic code. New DNA can then be added in this gap.

UNBC Professor of Chemistry Dr. Stephen Rader and his team have been working on gene splicing for the last three years. Frequently in research about gene splicing, scientists haved used human cells or yeast which is a complex organism to study. Rader and his team at UNBC biochemistry lab believe that looking at algae could give researchers a better understanding of how the process works. Mona Amini, Dr. Rader’s graduate student in biochemistry, explains that “Unlike human cells that are complex and should stay in 37 degrees”, Algae is a simple organism that grows in hot, acidic conditions. This is an ideal organism for gene splicing research which can provides a better understanding of how the process works in humans [sic]”.

Defective splicing is responsible for up to 60% of genetic diseases, including cancer and cystic fibrosis. Rader stated: “By finding a very simple version of the cellular machinery used to splice genes, we can determine which parts are essential to the process and which parts are accessories”. The research brings scientists another step closer to understanding the process. The project has just been published in The Proceedings of the National Academy of Sciences. “It is important to understand how splicing works so we can find ways to treat these diseases.” Rader says.

Predominantly, we hear about mutations that cause disease. Color-blindness is one of the most well-known inherited genetic disorders that caused by the mutation of a single gene. Most inherited genetic diseases are recessive, which means that a person must inherit two copies of the mutated gene to inherit a disorder. Hence, there is a high chance of genetic disorder for a child born from marriage between close relatives having the same copy of a defective gene. Cancer usually results from a series of mutations within a single cell. Often, a faulty, damaged, or missing p53 gene is to blame.

The Tech Museum of Innovation said that the p53 gene makes a protein that stops mutated cells from dividing. Without this protein, cells divide unchecked and become tumors. Thanks to natural selection, diseases caused by just one copy of a defective gene tend to get weeded out of populations over time, because afflicted carriers are more likely to die before reproducing.

We all start out our lives with some kinds of mutation inherited from our parents. However, there are also other kinds of mutations that can be acquired during lifetime. For example, some mutations happen during cell division, when DNA gets duplicated. Moreover, environmental factors, including UV radiation, chemicals, and viruses can be the source of DNA damages.

Nonetheless, many mutations have no effect at all. These are called silent mutations. Besides those rough mutations that threaten our lives, some of them can be also beneficial. Over time, genetic mutations create genetic diversity, which keeps populations healthy.

Hopefully UNBC continues to lead in such research in the future.