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A hypothesis that proposes that immune response reactions may cause the rapid acquirement of pathologically significant SNPs, allele combinations and/or runs of homozygosity in rheumatoid arthritis and Parkinson’s disease. By John Neville
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It was previously hypothesized that many SNPs that are associated with schizophrenia could be acquired rapidly in one generation as part of an immune response reaction. It is now hypothesized that... More > the same or a similar process could be responsible for some cases of rheumatoid arthritis (RA) and Parkinson’s disease.< Less
A hypothesis that proposes that in ALDH18A1 spastic paraplegia, the failure to produce specific proline residues required for the binding of SEC23IP as part of the COP2 transport process could be causative of symptoms and may be a viable treatment target By John Neville
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It is hypothesized that a failure or partial failure of ALDH18A1/PYCR1 to produce specific proline residues could be causative of symptoms in ALDH18A1 spastic paraplegia and also of symptoms in... More > ALDH18A1/PYCR1 cutis laxa. If so, any such missing proline residues may be viable treatment targets. In the case of ALDH18A1 spastic paraplegia, these proline residues would be required for the binding of SEC23IP/PI3P, whilst in the case of ALDH18A1/PYCR1 cutis laxa, the proline residues would be required for the formation of elastin. Contains approximately forty blank pages.< Less
Mir190, perhaps via interactions involving TP53INP1, CBX4 and 14-3-3 proteins, may play a significant role in SEC24A/SEC24D and CSNK1A/CSNK1D COP2 interactions which may be of significance in the aetiology of schizophrenia. By John Neville
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It is proposed that in addition to regulating prolyl 4 hydroxylase, Mir190 could play a significant role in SEC24A/SEC24D as well as CSNK1A/CSNK1D interactions and could thus play a role in... More > regulating the COP2 transport process. It is suggested that this may be via the MIR190 target TP53INP1 and CBX4 (17q25.3) which SUMOlates TP53INP1. That this may take place was indicated by the fact that the prolyl 4 hydroxylase sub unit P4HA2, along with the COP2 transport genes SEC24A and SAR1B, is located at 5q31.1 (CSNK1A is located at 5q32); whilst the prolyl 4 hydroxylase subunit P4HB, along with SEC24D, CSNK1D and PYCR1, is located at 17q25.3. It is also proposed that the suggested interaction of MIR190 with SEC24 and CSNK1, perhaps via TP53INP1 and CBX4 and 14-3-3 proteins, may play a significant role in the aetiology of schizophrenia.< Less
Analysing and attempting to connect the genetic and metabolic derangements underpinning a disorder which is linked to schizophrenia in Irish high density schizophrenia families (see preview to check for availability of free access). By John Neville
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A familial disorder that causes psychosis is described. Associated with the disorder are distinct patterns of physical symptoms and conditions that may be used to assist diagnosis. The proband... More > carries genetic markers that link the disorder to schizophrenia in Irish high density schizophrenia families. The genetic and metabolic derangements underpinning the disorder are analysed and potentially linked. Evidence is considered which supports a working hypothesis in which haplotype SNPs located at IL3 and/or ACSL6 at 5q31.1 result in or from the failure or partial failure of one or more ERE to activate a pathway leading from P5CS to proline.< Less
Describing for the first time a COP2 transport defect that causes psychosis - go to preview function for free access. By John Neville
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In a familial disorder that can cause psychosis that is comorbid with physical symptoms of various metabolic disorders, evidence is presented which indicates that the metabolic derangement in the... More > disorder likely centers on the hypofunction of SAR1B mediated COP2 transport, and the consequential hyperfunction of SAR1B/COP2 autophagy. This metabolic derangement has significant links to five genetic locations, three of which were previously reported on in the disorder – 5q31.1, 17p11.2 and 17p13.1. It is noted that a complete or partial failure of the PI3K product PI3P, or of PI4KA dependent PI4P, to bind with SEC23IP, as part of the COP2 transport process, would be almost entirely consistent with and provide a complete explanation for the presentation of this familial disorder.< Less
CCNB1, CCNB2, CCNA1, CCNA2, SYT1, SYT2, CKS2, CKS1B, CCNB3, SKP1, CDK1, RPS23, RPS27A, ZFAND4, RPS27, RPS27l, BUB1, BUB1B could play significant roles in the aetiology of schizophrenia by acting as points of contact between ALDH18A1 and SEC23IP (COP2). By John Neville
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Fourteen genes and their paralogues (CCNB1, CCNB2, CCNA1, CCNA2, SYT1, SYT2, CKS2, CKS1b, CCNB3, RPS23, RPS27A, ZFAND4, RPS27, RPS27l, BUB1, BUB1B, SKP1, CDK1), which putatively act as points of... More > contact between ALDH18A1 and COP2 associated genes, particularly SEC23IP and CSNK1D, are identified which could play significant roles in the aetiology of schizophrenia. Many of these genes are found at the same genetic locations as deletion/duplication disorders and/or CNVs that have been reported on as being associated with schizophrenia. A partial failure of SEC23IP binding is identified as a possible cause of symptoms of 22q Parkinson's disease. Proline residues are identified as possible treatment targets in 22q Parkinson's disease.< Less
Purpose-driven Rapid Evolutionary Selection. By John Neville
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A hypothesis is proposed in which the over-function of a pathway that results from an immune response reaction or simply the overuse of an organ or body part in turn results in rapid mutational... More > changes that support this over-function. In other words, rapid purpose-driven selection. The hotspot conversion paradox is also discussed.< Less
Is a link between RPS27 and Talin an important missing link in the aetiology of Cystic Fibrosis? By John Neville
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The weight of evidence is that mucus production in Cystic Fibrosis (CS) is a downstream consequence of a mutation in Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) and not a direct... More > consequence. Here it is hypothesized that the pathway that impacts lung and airway mucus hyperaccumulation in CS may be via CFTR to RPS27 to Talin genes, particularly TLN1, to fibronectin and to MUC5B. This hypothesized cascade/pathway may play a functional role in cystic fibrosis mucus hyperaccumulation in the lung and airways. If this is the case, targeting Talin function may result in an effective life-extending treatment.< Less
The multiprotein complex which interacts with CD36 to generate the pre-chylomicron transport vesicle required for COP2 transport may be of significance in a familial disorder which causes psychosis and in schizophrenia more generally. By John Neville
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It was previously concluded that patterns of genes located at 17q25.3 (the location of PYCR1, SEC24D, the prolyl 4 hydroxylase subunit P4HB and CSNK1D) and 5q31.1 (the location of SAR1B, SEC24A, the... More > prolyl 4 hydroxylase subunit P4HA2 and, at 5q32, CSNK1A) were probably significant in a familial disorder that causes psychosis. This allowed for a prediction that there must be a direct link between PYCR1 function and SAR1B function, as well as a link between SEC24, PYCR1, SAR1B, prolyl 4 hydroxylase subunits and casein kinase 1. Here it is pointed out that CD36 provides this link. Additionally, it was previously noted that SAR1B mediated COP2 transport probably played a significant role in the familial disorder and in schizophrenia more generally. Further evidence is presented that suggests that a novel multiprotein complex which interacts to generate the pre-chylomicron transport vesicle required for COP2 transport is of significance in the familial disorder and in schizophrenia more generally.< Less
The successful treatment of a patient with psychosis who carries SNPs that are significant markers of schizophrenia in Irish high density schizophrenia families and who has MTHFR deficiency (see preview to check for availability of free access). By John Neville
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A paper on the successful treatment of a patient with psychosis who carries SNPs that are significant markers of schizophrenia in Irish high density schizophrenia families and who has MTHFR... More > deficiency. See preview to check for availability of free access.< Less