Sporadic Schizophrenia linked to protein-altering gene mutations

Researchers have discovered that “new” protein-altering gene mutations account for more than 50% of Sporadic or non-hereditary schizophrenia cases.

In a report published in the Aug 7 online issue of the journal Nature Genetics, researchers demonstrated that although these new genetic errors known as “de novo” mutations appear in patients, they are not seen in either parent.
The patient group comprised individuals with schizophrenia while the control group involved healthy people. The study participants, whose genomes were genetically isolated and examined by researchers, belonged to Afrikaner families in South Africa and were of European descent.

All the 40 mutations identified by researchers originated on different genes, and they were mostly protein- altering and linked with sporadic schizophrenia.

The study authors said that the findings could shed new light on identifying hundreds of other mutations that contribute to schizophrenia.

In a medical center news release, first author and assistant professor of clinical neurobiology at Columbia University Medical Center, Bin Xu, said: “Identification of these damaging de novo mutations has fundamentally transformed our understanding of the genetic basis of schizophrenia.”

In the press release, co-leader of the team and a psychiatry professor at the medical center, Dr. Maria Karayiorgou, stated, “The fact that the mutations are all from different genes is particularly fascinating. It suggests that many more mutations than we suspected may contribute to schizophrenia. This is probably because of the complexity of the neural circuits that are affected by the disease; many genes are needed for their development and function.”
More information regarding schizophrenia is available from the US National Institute of Mental Health.

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