A novel treatment that targets the biological effects of a specific genetic mutation could help
alleviate the symptoms of psychosis, a new study finds.
Deborah L. Levy, Ph.D. — from the McLean Hospital in Belmont, MA — led the new study, the
findings of which now appear in the journal Biological Psychiatry.
It revealed that people who had additional copies of a certain gene, instead of the regular two,
benefited from the treatment.
The mutation, called a copy number variant (CNV), affects the glycine decarboxylase gene.
One hypothesis is that the doubling of this gene might reduce glycine, amino acid, and
neurotransmitter in the central nervous system. Researchers believe that a reduction of glycine is
a factor in schizophrenia.
The new study focused on two participants, a mother, and her son, with this particular mutation.
However, the participants did differ clinically; each person presented with distinct clinical
symptoms. Also, their conditions did not progress in the same way.
During the course of the study, the participants received glycine and D-cycloserine in addition to
their regular medications. Both were meant to boost the participants' glutamate function in hopes
of alleviating their symptoms.
These substances would not produce behavioral effects in healthy populations or those without a
CNV of this particular gene.
However, for the two participants who had this specific genetic mutation, the treatment
alleviated their schizophrenia symptoms, improved their emotional engagement, and boosted
their negative mood symptoms.
It also helped decrease their tendency to withdraw from social situations.
The National Institute of Mental Health defines schizophrenia as a chronic and severe mental
the disorder that affects how a person thinks, feels and behaves Symptoms often start in a person's
mid-teens through age 30, and although rare, sometimes the condition can affect younger
Symptoms fall under one of three categories: positive, negative, or cognitive.
Positive symptoms can include:
Schizophrenia might have a genetic component, and it does sometimes run in families — but not
always. Scientists also suspect that there needs to be an environmental factor, paired with
genetics, for an individual to develop the condition.
These environmental factors may include problems before or during birth, exposure to certain
viruses, or psychosocial factors.
The genetic factor may also come into play when someone goes through puberty, as the brain
undergoes significant changes during this time of development. This may trigger symptoms in
those who have a particular genetic makeup.
Modern treatments tend to focus on managing symptoms. Doctors often prescribe antipsychotic
medications, including second-generation antipsychotics such as Abilify and Risperdal.
Other therapies include psychosocial treatments, which often come into play when a person finds
a medication that works well for them. Psychosocial treatments help people learn to cope with
the challenges that schizophrenia presents.
The new study found a novel treatment for schizophrenia that is relatively unusual in psychiatry;
most modern treatments target specific symptoms instead of genetic mutations.
This type of treatment is contingent on a person having the mutations, of course, but this research
helps pave the way for future treatments that can help people in different, and better, ways.
Most studies of rare structural variants will have very small sample sizes, complicating the
the usual approach to statistical analysis,& says study author Charity J. Morgan, from the University
of Alabama in Tuscaloosa.
Nevertheless, because the effects of a targeted treatment can be large, it is important to
prioritize opportunities to study even small groups of patients who may benefit.
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