A schizophrenia breakthrough for real? RPL7, RPL23, RPS27, KRT

One or more of these four genes or their pseudogenes (RPL7, RPL23, RPS27, KRT) flanks almost all deletion regions that cause schizopnrenia as a comorbidity e.g. 22q11, and three out of four major Parkinson’s disease genes - Parkinson’s disease causes psychosis. In addition, a check against a gene panel for inborn errors of metabolism that cause schizopnrenia as a comorbidity shows that one or more of these four genes flank about a third of these causative genes.

Two of these genes - an RPL7 and and no less than three RPL23 genes - flank EGLN3. KRT9 is a top four disfunctional gene in EGLN3 silencing, whilst TPM1 is the top disfunctional gene. TPM genes are found right next to RPS27 genes at several locations.

I already posted that the major schizopnrenia gene DISC1 flanks EGLN1, whilst NPAS3, which is a gene where a mutation segregates with familial schizopnrenia, flanks EGLN3.

So a very reasonable hypothesis would be that deletions/mutations impact on the function of one or more flanking RPL7, RPL23, RPS27 or KRT genes, which in turn impact on RPL7 and/or RPL23 flanking EGLN3 or the EGLN3 gene targets TPM1 and KRT9. This then alters EGLN3/EGLN1 function and causes an altered hypoxic response and the symptoms of schizopnrenia.

This should be proven or disproven as a hypothesis ASAP, at least in my lay person’s opinion.

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Was a research done on this?

I would advise you to consult OMIM. That has the most comprehensive list of mutations associated with any genetic disorder, really. Right now it seems like all sz-related genes have “schizophrenia, susceptibility to” title.

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The research was by me. It happens that RPL23 is reported on in Parkinson’s and KRT18? from memory in schizopnrenia. But lots of genes have research done that suggests they have altered function.

The deletion regions I looked at were:7q11.23 dup, 17q12, NRXN1 del, 1q21.1 del, 1q21.1 dup, 3q29 del, 15q11.2 del, 15q11-q13 dup, 15q13.3 del, 16p13.11 dup, 16p12.1 del, 16p11.2 dup, 22q11.2 del. Out of these only 15q13.3, 16p11.2, 16p12.1 and 16p13.11 deletion/duplication regions did not throw up any obvious connections to EGLN gene targets nor to genes that flank EGLN genes. I guess they significantly increase risk rather than cause.

I did also look at Marfan disorder, porphyria and xanthomatosis and Nieman Pick disorder which all cause psychosis or have it as a comorbidity and they all have one or more of these four flanking genes.

The Parkionson’s genes I looked at were LRRK2, PARK7, PRKN and PINK1. Only PINK1 did not follow this pattern but it does link directly to EGLN3 function. The pattern holds for other Parkinson’s genes that I have looked at.

Like I said I also looked at a gene panel of Inborn Errrors of Metabolism genes with schizopnrenia as a comorbidity and about a third of these followed the pattern.

Cheers,

The deletion regions have their own names: an example of that is the 1q21.1 microdeletion syndrome.

Children with 1q21.1 deletions have developmental delays and problems with motor control.

There are no genes confirmed to have any association with schizophrenia.

Also, Marfan disorder with psychosis is rather considered to be Lujan–Fryns syndrome.

I have no idea who you are, but I recall someone posting about this theory. Did you make a duplicate account?

For the schizopnrenia-associated deletion regions, these are listed in a paper titled: Schizophrenia-associated genomic copy number variants and subcortical brain volumes in the UK. I should more properly have referred to deletion regions and duplications or better yet CNV.