And it may have implications far beyond schizophrenia.
Schizophrenia has long perplexed scientists and doctors, and while they know that genetic factors play a major role in the disorder, they haven’t yet pinned down all of the specific genes involved.
However, according to the results of a new study published in the journal Nature Neuroscience, scientists have identified a rare mutation in the SETD1A gene that tremendously increases the risk of developing schizophrenia — in fact, by a 35-fold increase.
Schizophrenia affects about 1 percent of the population and can cause severe delusions and hallucinations. Unfortunately, since the disorder is so misunderstood, there are currently no cures, and the available treatments aren’t always effective.
The genetics behind schizophrenia is unarguably complex with hundreds of genes already linked the disease, and to further complicate everything, multiple types of genetic changes and mutations can occur in these genes. These small tweaks can have a large impact on the chance of developing the disorder.
Using a technique called “whole-exome sequencing,” researchers at The Wellcome Trust Sanger Institute decided to look for any rare, small genetic changes linked to schizophrenia. This technique involves examining the full DNA letter sequence of the parts of genes that encode proteins that perform different tasks in cells.
A previous study showed that, on average, patients with schizophrenia had a higher number of particularly disruptive genetic mutations that either reduce or cancel out the resulting protein, dramatically altering its sequence. These mutations are called “loss-of-function” or LoF mutations.
Building on this knowledge, the new study found that LoF mutations in one particular gene — SETD1A — were linked with schizophrenia, increasing the risk of developing the condition by 35-fold.
LoF mutations in SETD1A are extremely rare, but the researchers only found this mutation in schizophrenia — no cases were found in healthy people.
Further, this mutation may have implications beyond schizophrenia. The researchers found that it may affect brain development in general, as a number of the patients with SETD1A LoF mutations had learning difficulties and and developmental disorders.
Basically, a SETD1A mutation makes the brain vulnerable to a number of disorders, but which condition does or does not occur likely depends on other genetic and environmental factors as well.
Keep in mind that this genetic mutation is extremely rare, so it may not even show up in many people who are diagnosed with schizophrenia. However, this finding adds to the evidence that it’s critical to understand how genes shape brain development.
Better understanding the links between genes, genetic mutations, and brain disorders can ultimately lead to better treatments and potential cures for patients.
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