Unlocking the role of rare tandem repeats in schizophrenia

Scientists link schizophrenia to rare genetic phenomena

The language of DNA, which is unique to each person, is written in our cells. In DNA, a tandem repeat is when one or more nucleotides (the basic structural units of DNA) are repeated in tandem. These include cytosine(c), adenine(A), guanine(G), and thymine(T). A good example would be CAG CAG – the pattern CAG repeated three times.

Now, using the latest whole-genome sequence and machine-learning techniques, Jin Szatkiewicz’s lab at the UNC School of Medicine, led by associate professor of genetics Dr. Jin Szatkiewicz and his colleagues, conducted one of the largest and most comprehensive investigations of tandem repetitions in schizophrenia. They were able to determine their role in the development of this deadly disease.

The research, published in Molecular Psychiatry journal, shows that schizophrenia patients have a higher rate of rare tandem repetitions in their genomes – 7% more than those without schizophrenia. They also observed that tandem repeats are not distributed randomly throughout the genome. Instead, they are primarily located in genes critical to brain function. Previous studies have shown that these genes play a role in schizophrenia.