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精神分裂症患者的突变与端粒长度的关系

Relation of Mutations and Telomere Length in Schizophrenia Patients.

作者信息

Uzuncakmak Sevgi Karabulut, Dirican Ebubekir, Ozcan Halil, Takim Ugur

机构信息

Health Services Vocational School, Bayburt University, Bayburt, Turkey.

Faculty of Medicine, Department of Psychiatry, Atatürk University, Erzurum, Turkey.

出版信息

Clin Psychopharmacol Neurosci. 2023 Feb 28;21(1):162-170. doi: 10.9758/cpn.2023.21.1.162.

Abstract

OBJECTIVE

Schizophrenia is a serious mental disorder. Mutations in mitochondrial genes can change energy metabolism. Telomere is a tandem sequence at the end of chromosomes. Shorter telomere length has been shown in schizophrenia. The aim of this study was to determine the relationship between gene mutations and telomere length in schizophrenia patients.

METHODS

Blood samples of 34 patients and 34 healthy controls were used. In this study conventional PCR, Sanger sequencing technic and real-time PCR were utilized.

RESULTS

Five different mutations (A8860G, A8836, G8697A, C8676T, and A8701G) in the gene were identified in schizophrenia patients. The most seen mutation was A8860G (94%). Telomere length analysis indicated the relation of gene mutations and telomere length variations ( = 0.001). Patients carrying the A8860G mutation had shorter telomere lengths than patients carrying other mutations. Comparing telomere length between schizophrenia patients and healthy controls revealed that the mean telomere length of schizophrenia patients was shorter than healthy controls ( = 0.006). The demographic analysis demonstrated a significant relationship between marital status and telomere length ( = 0.011). Besides that, the duration of the illness is another factor that impacts telomere length ( = 0.044). There is no significant relation between telomere length and other clinical and demographic characteristics including education status, age, gender, etc.

CONCLUSION

In conclusion, telomere length and gene mutations have a significant relation. Studies with larger patient populations and investigation of other mitochondrial gene mutations will make the clearer link between telomere length and mitochondrial mutations.

摘要

目的

精神分裂症是一种严重的精神障碍。线粒体基因突变可改变能量代谢。端粒是染色体末端的串联序列。精神分裂症患者的端粒长度较短。本研究的目的是确定精神分裂症患者基因突变与端粒长度之间的关系。

方法

使用34例患者和34名健康对照者的血样。本研究采用常规PCR、桑格测序技术和实时PCR。

结果

在精神分裂症患者中鉴定出该基因的5种不同突变(A8860G、A8836、G8697A、C8676T和A8701G)。最常见的突变是A8860G(94%)。端粒长度分析表明基因突变与端粒长度变化有关(P = 0.001)。携带A8860G突变的患者端粒长度比携带其他突变的患者短。比较精神分裂症患者和健康对照者的端粒长度发现,精神分裂症患者的平均端粒长度比健康对照者短(P = 0.006)。人口统计学分析表明婚姻状况与端粒长度之间存在显著关系(P = 0.011)。除此之外,病程是影响端粒长度的另一个因素(P = 0.044)。端粒长度与其他临床和人口统计学特征(包括教育程度、年龄、性别等)之间无显著关系。

结论

总之,端粒长度与基因突变有显著关系。对更多患者群体进行研究并调查其他线粒体基因突变将使端粒长度与线粒体突变之间的联系更加清晰。

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