science at UNBC ne Feature

A new way to study genetic disease

stops mutated cells from dividing. Without this
protein, cells divide unchecked and become tumors.
Thanks to natural selection, diseases caused by just
I: the realms of science, DNA is a constant subject to mutations. Mutations are a direct effect | one copy of a defective gene tend to get weeded

of a genetic material which is accidentally going to be altered in its code. When we look at out of populations over time, because afflicted
mutations, we are told that the options are things like Charles Xavier, who can read minds, or _ carriers are more likely to die before reproducing.
Wolverine’s ability to heal himself. Despite the fantasy of being a superhero X, mutations ina

Mani Samani
Team Member

more realistic world won’t cause these dramatic effects. Furthermore, mutations can lead to We all start out our lives with some kinds of

missing or malformed proteins, and that can lead to disease. However, recent UNBC research mutation inherited from our parents. However,

on genes has demonstrated new ways to study the reasons of these genetic disorders. there are also other kinds of mutations that can
be acquired during lifetime. For example, some

According to “RNA splicing: disease and therapy”, a paper published in Oxford Journals, mutations happen during cell division, when

many different human genetic diseases can be caused by errors in RNA splicing or its DNA gets duplicated. Moreover, environmental

regulation. Gene splicing involves cutting out part of the DNA ina gene and adding factors, including UV radiation, chemicals, and

new DNA in its place. The process is entirely chemical with restriction enzymes used. viruses can be the source of DNA damages.

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, Nonetheless, many mutations have no effect at all.

leaving behind a gap in the genetic code. New DNA can then be added in this gap. These are called silent mutations. Besides those rough
mutations that threaten our lives, some of them

UNBC Professor of Chemistry Dr. Stephen Rader and his team have been working on can be also beneficial. Over time, genetic

gene splicing for the last three years. Frequently in research about gene splicing, mutations create genetic diversity,

scientists haved used human cells or yeast which is a complex organism to study. which keeps populations healthy.

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. Hopefully UNBC continues

Rader’s graduate student in biochemistry, explains that “Unlike human cells that to lead in such research

are complex and should stay in 37 degrees”, Algae is a simple organism that grows in the future.
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