{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Recent evidence indicates that the gene DISC1FP1 (also known as Boymaw) plays a critical role in regulating mitochondrial function and protein translation in neural cells. In individuals carrying the balanced t(1;11) translocation, DISC1FP1 becomes fused with DISC1, leading to the production of abnormal chimeric transcripts and proteins (for instance, CP1, CP60, CP69, and the DISC1‐Boymaw [DB7] fusion protein) that exhibit altered biophysical properties and impaired function. These fusion proteins have been shown to localize predominantly to mitochondria, where they inhibit oxidoreductase activity, reduce rRNA expression, and dampen protein translation. Such disruptions in mitochondrial bioenergetics and protein synthesis are thought to contribute to aberrant neuronal development and altered cellular homeostasis, thereby implicating these molecular events in the pathogenesis of major psychiatric disorders."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": " Additionally, studies suggest that in its normal context, DISC1FP1 may encode a small, mitochondrially localized protein that itself can regulate these key mitochondrial processes; its expression appears to be up‐regulated under stress conditions and is elevated in the brains of patients with psychiatric disorders, further reinforcing its potential role in disease susceptibility."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Collectively, these findings support a model in which both DISC1FP1 disruption and the consequent production of deleterious fusion proteins contribute to mitochondrial dysfunction and impaired neuronal development, thus offering a molecular link to the increased risk of psychiatric illness observed in carriers of the t(1;11) translocation.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Jennifer E Eykelenboom, Gareth J Briggs, Nicholas J Bradshaw, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A t(1;11) translocation linked to schizophrenia and affective disorders gives rise to aberrant chimeric DISC1 transcripts that encode structurally altered, deleterious mitochondrial proteins."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/dds169"}], "href": "https://doi.org/10.1093/hmg/dds169"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22547224"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22547224"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Baohu Ji, Kerin K Higa, Minjung Kim, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Inhibition of protein translation by the DISC1-Boymaw fusion gene from a Scottish family with major psychiatric disorders."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddu285"}], "href": "https://doi.org/10.1093/hmg/ddu285"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24908665"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24908665"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Baohu Ji, Minjung Kim, Kerin K Higa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Boymaw, overexpressed in brains with major psychiatric disorders, may encode a small protein to inhibit mitochondrial function and protein translation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet B Neuropsychiatr Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.b.32311"}], "href": "https://doi.org/10.1002/ajmg.b.32311"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25943690"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25943690"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "A Talib Norlelawati, Abdullah Kartini, Kuzaifah Norsidah, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Disrupted-in-Schizophrenia-1 SNPs and Susceptibility to Schizophrenia: Evidence from Malaysia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Psychiatry Investig (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4306/pi.2015.12.1.103"}], "href": "https://doi.org/10.4306/pi.2015.12.1.103"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25670952"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25670952"}]}]}]}