| The genetic information (DNA) in our cells
plays a major role in how our body works. Spelling mistakes
often happen when this information is being transcribed. When
these spelling mistakes occur on uncoded genes, there aren't
any consequences. In a few rare cases, however, a spelling
mistake – or mutation - can have serious implications.
Meet Ziad, Maria, and Nicholas. They all live with the consequences
of mutations in their genetic code. You will see that sometimes
these mutations can cause an illness like diabetes, a handicap
like colourblindness and even resistance to a disease like
AIDS. Read each of these three scenarios and then describe
in a few lines each person's daily life.
| Scenario 1 - Ziad
Ziad was born with poor eyesight: he is colour-blind.
This disorder was genetically passed down to him by
his mother, and yet she does not suffer from colour-blindness
herself. How can that be? Well, Ziad's particular
type of colour-blindness (the inability to distinguish
between red and green) is the most common kind and is
caused by a genetic defect on the x chromosome.
Since he can't rely on colour to help him go about
his daily activities, Ziad has to find other ways of
coping. How do you think he manages? To help you answer
this question, try to imagine what Ziad has to do to
dress himself properly, find the family car in a parking
lot, identify insects for his collection or choose fresh
fruit and vegetables at the grocery store. |
| Scenario 2 - Maria
Maria suffers from diabetes. Because her pancreas doesn't
produce insulin, Maria can't control the amount
of sugar in her bloodstream. Insulin is very important
because it helps our bodies effi ciently use the energy
in the food we eat and keeps our bodies in good working
order.
Unfortunately, there is no cure for diabetes, but
the disease can be controlled. To do so, Maria has to
inject herself with insulin before each meal. She can
never skip meals and she must always keep a few healthy
snacks on hand, especially before and after strenuous
physical activity. Maria is a very active teenager.
She plays soccer twice a week after school and she also
sings with the school choir twice a week. At the moment
she is planning a two-week family vacation to South
America to visit her grandparents. What precautions
do you think Maria has to take if she wants to do all
these activities without any difficulty? |
| Scenario 3 - Nicholas
Nicholas has been a heroin addict for several years
now. Despite his doctor's frequent warnings, Nicholas
still shares needles with other heroin addicts. This
is dangerous because when needles are shared, the contaminated
blood of a person infected with the HIV virus, or other
diseases, can be transmitted to another person. The
HIV virus can eventually cause AIDS, where a person's
immune system breaks down and they become highly susceptible
to a range of illnesses, including some that can cause
death. Currently there is no cure for HIV or AIDS.
One day, a friend Nicholas had shared needles with
told him he had AIDS. Worried and convinced that he
was infected too, Nicholas decided to get tested. He
and his doctor learned that he had in fact contracted
the HIV virus. Several years went by and Nicholas still
did not develop AIDS, so he and his doctor decided to
do some more medical tests. The HIV virus can stay in
the human body for several years without any signs of
illness: this is the HIV-positive period. The disease
can show itself as early as two years after being infected
by the HIV virus or as late as ten years. They discovered
that Nicholas' genetic code contained two mutant
copies of a certain gene. Luckily, this mutation protects
the cells against attacks by the HIV virus. Less than
1% of Caucasian, or white, males have this mutation.
Thanks to this mutation, Nicholas will spend the rest
of his life without ever developing AIDS, although he
will still be a carrier of the HIV virus and he could
infect others.
In this case, the mutation had a positive effect on
someone's health. Use your imagination to think
up beneficial genetic mutations that would make humans
even better. You can use super-heroes like Superman
as your inspiration. |
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