New Genetic Mutation linked to SZ

New Genetic Mutation Discovered in People with Schizophrenia

Scientists at The Feinstein Institutes for Medical Research, in collaboration with Columbia University, say they have identified a gene mutation that could result in schizophrenia, a chronic brain disorder that affects nearly one percent of the world’s population. Their study “Novel ultra-rare exonic variants identified in a founder population implicate cadherins in schizophrenia,” published in Neuron , could lead to novel treatment strategies, according to the team.

“The identification of rare variants associated with schizophrenia has proven challenging due to genetic heterogeneity, which is reduced in founder populations. In samples from the Ashkenazi Jewish population, we report that schizophrenia cases had a greater frequency of novel missense or loss of function (MisLoF) ultra-rare variants (URVs) compared to controls, and the MisLoF URV burden was inversely correlated with polygenic risk scores in cases,” write the investigators.

“Characterizing 141 ‘case-only’ genes (MisLoF URVs in ≥3 cases with none in controls), the cadherin gene set was associated with schizophrenia. We report a recurrent case mutation in PCDHA3 that results in the formation of cytoplasmic aggregates and failure to engage in homophilic interactions on the plasma membrane in cultured cells. Modeling purifying selection, we demonstrate that deleterious URVs are greatly overrepresented in the Ashkenazi population, yielding enhanced power for association studies. Identification of the cadherin/protocadherin family as risk genes helps specify the synaptic abnormalities central to schizophrenia.”

The research team, led by Todd Lencz, PhD, with Itsik Pe’er, PhD, Tom Maniatis, PhD, and Erin Flaherty, PhD, of Columbia University, carried out a genetic study identifying a single letter change in the DNA code in the PCDHA3 gene that is associated with schizophrenia. The affected gene makes a type of protein called a protocadherin, which generates a cell surface “barcode” required for neurons to recognize, and communicate with, other neurons. They found that the PCDHA3 variant blocks this normal protocadherin function.

The discovery was made possible by the special genetic characteristics of the samples studied by Lencz’s team—patients with schizophrenia and healthy volunteers drawn from the Ashkenazi Jewish population. The Ashkenazi Jewish population represents an important population for study based on its unique history. Just a few hundred individuals who migrated to Eastern Europe less than 1,000 years ago are the ancestors of nearly 10 million Ashkenazi Jews today. This lineage, combined with a tradition of marriage within the community, has resulted in a more uniform genetic background in which to identify disease-related variants.

“In addition to our primary findings regarding PCDHA3 and related genes, we were able— due to the unique characteristics of the Ashkenazi population—to replicate several prior findings in schizophrenia despite relatively small sample sizes,” said Lencz, professor in the Institute of Behavioral Science at the Feinstein Institutes. “In our study, we demonstrated this population represents a smart, cost-effective strategy for identifying disease-related genes. Our findings allow us to zero in on a novel aspect of brain development and function in our quest to develop new treatments for schizophrenia.”

“Lencz’s research into the role of genetics in schizophrenia offers a major advance,” said Kevin J. Tracy, MD, president and CEO of the Feinstein Institutes. “This work may open new avenues to developing therapeutics, which are sorely needed.”


The functional characteristics of the thing that you call it Hallucination is the mutational factor in it self, who works between the cultural cells of the brain,and it is not rooted from a genetic mutation,and above of all there is no materialist structure (organic /cellular or chemical ) for the thing that you call it Hallucination because it is merely a whole living psychic components (parasitical) ,and this makes the treatment of sz or its symptoms a hard mission !! Because there is no antibodies for a psychological parasite

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What is the goal that the genetic searches should aim to discover the actual cause responsible for all forms of changes,disorders and symptoms of sz ?

In other words,what is the thing that issues the directives (operating orders) that are translated into all forms of changes and that create the disorder in the existing system (bio / psy) and ultimately lead to the symptoms that the individual suffers from or diagnosed by the Dr. ?

Does the current searches for anatomical mutation , genetic or about abnormal chemistry and take any one of them as a cause for sz or its symptoms will be beneficial ?

The false belief that ,there are quantitative / qualitatively anomalous chemicals (transmitters )that are excreted through operating orders issued by an endogenous factor (gene (s) ) that translated into forms of change/ disorder and symptoms ,while in the actual reality the functions of the brain cells carry out an parasitical operating orders of an external factor (psychic parasite) that it is not a natural part of the human genetic material itself !!

How can the genetic searches discover the present of the external factor (psychic parasite) and make sure beyond a reasonable doubt that it is the final responsible (circus player /clown) who presents the comic symptoms of the health condition be called SZ ?

What we say is a challenge to the too much of the scientific theories !

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Ahhh too much to read… :persevere:

Could this be summarised?

We encourage the criticism for what we said,even if the criticism is just a soap bubble !