A rare genetical phenomenon might play role in schizophrenia, as scientists reveals

Scientists found that rare form of a common genetic variant called tandem repeats is linked to development of schizophrenia.

A rare genetical phenomenon might play role in schizophrenia, as scientists reveals
Scientists associated rare genetic phenomenon to schizophrenia.

The study led by Jin Szatkiewicz, PhD, UNC School of Medicine researchers and University of Toronto colleagues have found that rare genetical phenomenon that is tandem repeats is heavily associated with the development of schizophrenia. 

In our cells, the language of DNA is written and these make us unique persons. A tandem repeat can be observed in DNA when a pattern of one or more nucleotides – that is the most basic structural unit of DNA which is coded in the base of chemicals cytosine (C), adenine (A), guanine (G) and thymine (T) – is repeated multiple times in tandem. As an example of tandem repeats: AGC AGC AGC, in which the pattern AGC is repeated three times. 

Using whole-genome sequencing and machine learning methods, associate professor of genetics Jin Szatkiewicz and University of Toronto colleagues conducted these tandem repeats in schizophrenia, to clarify whether they play role in development of this disease.

Published in the journal Molecular Psychiatry, this research shows that the persons with schizophrenia disease had a higher rate of these rare tandem repeats in their genomes – 7% more than individuals without schizophrenia disease. Moreover, they observed that the tandem repeats were not randomly located throughout the genome. They were mainly found in genes vital to brain function and known to be important in schizophrenia. 

"We think this discovery opens doors for future functional studies on the precise biological mechanism of such variants," said Szatkiewicz. "Understanding the biological cause of schizophrenia will enable future development of diagnostic tests, effective pharmaceuticals, and personalized treatments." she added. 

"We think this is an important study," said co-senior author Ryan Yuen, PhD from University of Toronto, "We're confident our work sheds significant light on the role of tandem repeat DNA mutations play in the development of schizophrenia."