A professor from Western University’s Faculty of Science, Dr. Shiva Singh, has discovered the first biological marker for schizophrenia.
Image Source: Global News
“Schizophrenia is relatively common in most populations,” explained Singh. “This enticed me as a geneticist because, for identical twins it is not necessary for both to develop schizophrenia… so, the geneticist thinks; if they started from the same egg and the same sperm, where does the difference come from?”
Dr. Singh predicted one of two possibilities: either humans have the capability to mutate even after the egg has been fertilized (known as the zygote) or there are specific environmental factors involved which lead to schizophrenia.
Mutations after fertilization is a possibility that had not been published yet in any form of scientific literature.
“What every genetic book teaches you is that you inherit one set of chromosomes from your father and the other set from your mother… no accommodation is made for new variations after the zygote is formed. An anomaly to this would be cancer,” stated Singh.
According to Dr. Singh, not all of the new mutations are passed on to next generation because they happen in the brain.
Upon advancing their study, Dr. Singh stated the importance of using discordant twins in their experiment. According to National Centre for Biotechnology Information, discordant twins are identical twins where the given genetic trait is in only one member of the pair. This is very effective when conducting experiments to control the factors that can affect the study.
“I asked Rick to find me some twins and he was really terrific—went all around the world, spent some time in Ireland, in California and some time all across Canada and contacted all his colleagues that are treating schizophrenia,” explained Singh.
Normally, genome sequences (information that makes up a person’s DNA) of identical twins are the same, yet according to research, independent mutations in aging twins increase. This formed the basis of Dr. Singh and team’s study as it focused on the independent mutations that resulted in schizophrenia.
Mutations that occur in genes can be studied by genome sequencing an individual. According to the Genome News Network, this is when the order of DNA nucleotides that make up an organism is figured out.
“I had all three billion bases (basic unit of a gene) of each person involved, which really meant we had to get help—computers—to find out and to tell us where is the twin that is diseased and has got a mutation and where the normal does not,” said Singh.
Genes are responsible of signalling cells in the body to do their tasks therefore damaging a gene can damage the way a whole part of the body works.
“It turns out that the set of mutations that we found, they were confined to genes that have been already been implicated in schizophrenia… involved in dopamine and the glutamine pathways were where the schizophrenic genes really belonged to. Drugs that are given to schizophrenia patients are altering the dopamine function or glutamine function. As you can see, it really comes together from a very unexpected sort of way,” said Dr. Singh.
The study can be used in the future to improve diagnosis and treatment, according to Dr. Singh.
Currently, many mental illnesses are very subjective and hard to diagnose. The combination of identifying mutations just like this study did and recognizing behavioral symptoms means an individual can be diagnosed with schizophrenia.
“Accurate diagnosis is very critical and very important and probably the main problem when dealing with mental illnesses, particularly schizophrenia. This could be done by looking at where the mutations are, if they are present. Because there is a large number of genes—over 108 genes are involved—it is much easier nowadays to sequence the whole genome,” stated Dr. Singh.
When he completed the genome sequencing years ago, he paid $12 000 per person, totalling to $96 000 to just obtain the sequences.
“Today the same sequence can be obtained for something like 1000 dollars. In a few years, I predict it will be 100 dollars. And that 100 dollars you have to spend once in your life and you have the complete genome sequence.”
According to Dr. Singh, a general population screening could be done as well for only $100.
Following diagnosis, treatment is the next target for improvement through this research.
“The most popular technique nowadays to deal with schizophrenia is a hit and miss technique. Let’s try drug number one, if you are not getting a response, let’s try drug number two. And it is not the fault of the physician, that is our understanding. That is all we know. There is not a better way to deal with it,” says Dr. Singh.
This study helps everyone identify which pathway is affected, targeting only that pathway.
“This is what I refer to as precision medicine—individual specific based on the mutation the person carries,” states Dr. Singh.
Dr. Singh has taught genetics at Western University for 40 years. He collaborated with Dr. Richard O’Reilly, a psychiatrist at Western, for this project.
He is currently working on many other projects and plans on continuing his journey at Western as a genetic researcher. The full study can be found in the Journal for Clinical and Translational Medicine.
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