Further evidence of the role of microRNA in schizophrenia: a case report.

IF 1.5 4区医学 Q4 GENETICS & HEREDITY Psychiatric Genetics Pub Date : 2024-10-01 Epub Date: 2024-07-16 DOI:10.1097/YPG.0000000000000374

Cecilia Sanjuan-Ortiz, Luis M Rojo-Bofill, Monica Rosello, Carmen Orellana, Carmen Iranzo-Tatay

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Abstract

According to the neurodevelopmental hypothesis of schizophrenia, genetic predisposing factors cause abnormalities in neural functions, leading to the disease. A 2-year follow-up of a young woman with schizophrenia is presented. Karyotype, Affymetrix CytoScan TM 750K SNP array, and optical genome mapping ultra-high molecular weight were carried out. The case presented a severe and resistant to treatment schizophrenia. A 404 kbp microduplication in 2q13 (chr2 : 112088944-112492811; Hg19) was revealed, which includes an only gene ( MIR4435-2HG , OMIM 617144). The Positive and Negative Syndrome Scale of Schizophrenia questionnaire showed a moderate improvement after 2 years, but functioning was still poor. The presented case had a microduplication of copy number variants at 2q13, previously linked to schizophrenia, but it only involved one gene, encoding a microRNA, which regulates the expression of candidate genes associated to neurodevelopment. This case provides further evidence of the importance of microRNA in the pathogenesis of schizophrenia.

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微RNA在精神分裂症中作用的进一步证据：病例报告。

根据精神分裂症的神经发育假说，遗传易感因素会导致神经功能异常，从而引发精神分裂症。本报告对一名年轻女性精神分裂症患者进行了为期两年的随访。对该病例进行了核型、Affymetrix CytoScanTM 750K SNP 阵列和超高分子量光学基因组图谱分析。该病例患有严重的抗药性精神分裂症。研究发现，2q13（chr2 : 112088944-112492811; Hg19）有一个 404 kbp 的微重复，其中包括一个唯一的基因（MIR4435-2HG，OMIM 617144）。精神分裂症阳性和阴性综合征量表问卷调查显示，患者的病情在两年后有了一定程度的改善，但功能仍然很差。本病例的 2q13 基因存在微重复拷贝数变异，该变异以前曾与精神分裂症有关，但它只涉及一个编码 microRNA 的基因，而该基因能调节与神经发育有关的候选基因的表达。这一病例进一步证明了 microRNA 在精神分裂症发病机制中的重要性。

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来源期刊

Psychiatric Genetics 医学-神经科学

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

3 months

期刊介绍： The journal aims to publish papers which bring together clinical observations, psychological and behavioural abnormalities and genetic data. All papers are fully refereed. Psychiatric Genetics is also a forum for reporting new approaches to genetic research in psychiatry and neurology utilizing novel techniques or methodologies. Psychiatric Genetics publishes original Research Reports dealing with inherited factors involved in psychiatric and neurological disorders. This encompasses gene localization and chromosome markers, changes in neuronal gene expression related to psychiatric disease, linkage genetics analyses, family, twin and adoption studies, and genetically based animal models of neuropsychiatric disease. The journal covers areas such as molecular neurobiology and molecular genetics relevant to mental illness. Reviews of the literature and Commentaries in areas of current interest will be considered for publication. Reviews and Commentaries in areas outside psychiatric genetics, but of interest and importance to Psychiatric Genetics, will also be considered. Psychiatric Genetics also publishes Book Reviews, Brief Reports and Conference Reports.