Introduction to psychology: Biological

psychology

• Genes and genetic disorders

Associate Professor Matthew E. Mundy PhD: Hi. I'm Matt and I'm going to provide an
overview of some genetic disorders that can impact behaviour. Genetic disorders are typically
linked a number of ways. We have what's called an X-linked disorder, which results from a
genetic abnormality on the X chromosome. Fragile X Syndrome would be an example of such
an X-linked disorder.

We also have dominant disorders, where a single copy of one abnormal gene is sufficient to
cause a genetic condition, a 50% risk of inheriting the gene for the disorder. Huntington's
disease is an example of this. Another type is a recessive disorder, where two copies of the
abnormal gene are needed to produce the disorder. It's a 25% risk of inheriting the gene for
this kind of disorder. Cystic fibrosis would be an example of a recessive disorder.

Genes are not without their complexities. For some time, researches have sought to better
understand the genetics of a disorder and to pinpoint when one part of the gene would
produce a particular type of behaviour. Researchers have discovered that there's no simple
relationship. Genes are very complex, and you need to look at the journey of that gene, and
how it interacts with other genes in development, and the impact of the environment, as well.
It's extremely difficult to really understand how genes impact behavior and it's one of the
most challenging things that you can do, in fact.

Gender also affects if you have an X-linked disorder. For example, if there's a deficit in the X
chromosome, as seen in Fragile X Syndrome, for example, where the gene is turned off, and it
affects both men and women. If the woman passes that gene on to her son, he is likely to
have the full effects of Fragile X Syndrome, because he has no other X chromosome to back
him up. If the woman passes it on to her daughter, she has an unaffected X chromosome as
well as the affected of X chromosome, and there's a buffering effect.

So this means that there's a gender defect. When you have an X-linked chromosome disorder,
typically, men are more impaired because they have no backup X chromosome, because they
have a Y chromosome instead. And in women, there can be some buffering, because you have
an unaffected X chromosome that is still producing all that it would have done, anyway.

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There's problems with gene protein levels. And some individuals' protein levels can be
reduced, and in others, maybe not as much. Yet the gene could be turned off in both. We're
only beginning to know how a gene interacts with other genes across very early development.
And you've got the issue of an inherited set of unaffected genes and their impact.

So when you have a disorder that's an impairment on one chromosome, you've still got all the
other genes that make up you. Those genes that would have been created for you to be the
person you are, are still there. And they're different for every other person. So you end up
with what's called heterogeneity within a disorder that is just the result of one particular gene
anomaly. But not everyone is the same.

One example of this would be with Down syndrome, where there's a triplication of
chromosome 21. It was often assumed, and still is today, that all children with Down
syndrome are the same, because they have this triplication of chromosome 21. What we now
know is that, in these children, there are many other genes that have been inherited from
their family line that also impact on their phenotype. So it's the case that not everybody is
exactly the same.

Importantly, there's a growing understanding and respect for the role of the environment in
sometimes subtly changing phenotypes, or changing behaviours, because of extremities in the
environment. This is a wonderful new part of the research that's taking place in psychology.
And it's part of this puzzle that has been really neglected.

We know a lot about genes. We know a lot about the role of the brain. We know a lot about
the cognitive stuff. But the role of the environment in shaping it all is one of the final pieces of
the puzzle, and one of the reasons why we see so much heterogeneity, as well, in these
disorders.

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