Department of Psychiatry, All India Institute of Medical Sciences, New Delhi, India.
Department of NDDTC, All India Institute of Medical Sciences, New Delhi, India.
Niger Postgrad Med J. 2024 Jul 1;31(3):234-239. doi: 10.4103/npmj.npmj_119_24. Epub 2024 Sep 2.
The mitochondrial DNA (mtDNA) G10398A polymorphism has been associated with bipolar disorder (BD). It leads to an amino acid substitution within NADH dehydrogenase subunit, thereby altering the mitochondrial complex I function. This exploratory case-control study assesses the association of mtDNA G10398A with the risk of BD and its relationship to clinical variables in Indian patients.
Cases met the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition diagnosis of BD-I in remission and had a family history of BD or recurrent unipolar disorder in biological relatives. The healthy controls (HC) had no known illness and were screened negative for Family Interview for Genetic Studies. Participants were assessed using Clinical Pro forma, NIMH-Life Chart Method and Alda lithium response scale. The mtDNA G10398A was assessed with real-time polymerase chain reaction using TaqMan assay.
A total of 82 participants were recruited across cases and controls, with 42 patients (50% with maternal history) and 40 healthy individuals with similar demographic profiles. The mean age of onset was 25.16 (standard deviation [SD] 7.6) years, with illness for 11.59 years (SD: 7.18). Allele A was found in 50% of cases compared to 32.5% HC (odds ratio = 2.08; 95% confidence interval [CI]: 0.85-5.09). Findings remain non-significant for patients with maternal mood disorders (allele A: 38.9%; 21/42). Cases with allele G had significantly higher body mass index (BMI) (P = 0.008) than those with allele A.
The study adds information on mtDNA 10398A amongst Indian patient samples and healthy individuals. No significant group difference was found with respect to mtDNA G10398A. The positive association of allele G with higher BMI has potential clinical relevance that can be further investigated in larger samples.
线粒体 DNA（mtDNA）G10398A 多态性与双相情感障碍（BD）有关。它导致 NADH 脱氢酶亚单位内的氨基酸替换，从而改变线粒体复合物 I 的功能。这项探索性病例对照研究评估了 mtDNA G10398A 与印度患者 BD 风险的关联及其与临床变量的关系。
病例符合缓解期《精神障碍诊断与统计手册》第五版（DSM-5）BD-I 的诊断标准，且在生物学亲属中有 BD 或复发性单相情感障碍的家族史。健康对照（HC）无已知疾病，且经《家族访谈遗传研究》筛查为阴性。参与者使用临床表格、NIMH 生活图表方法和 Alda 锂反应量表进行评估。使用 TaqMan 测定法通过实时聚合酶链反应评估 mtDNA G10398A。
共招募了 82 名病例和对照者，其中 42 名患者（50%有母亲病史）和 40 名健康个体具有相似的人口统计学特征。发病年龄的平均值为 25.16 岁（标准差[SD]7.6），病程为 11.59 年（SD：7.18）。病例组中有 50%发现等位基因 A，而对照组中有 32.5%（优势比=2.08；95%置信区间[CI]：0.85-5.09）。在有母亲心境障碍的患者中，等位基因 A 为 38.9%（42/108），结果仍然无统计学意义。携带等位基因 G 的病例的体重指数（BMI）显著高于携带等位基因 A 的病例（P=0.008）。
该研究提供了有关印度患者样本和健康个体中 mtDNA 10398A 的信息。未发现 mtDNA G10398A 与组间存在显著差异。等位基因 G 与较高 BMI 的正相关具有潜在的临床相关性，可在更大的样本中进一步研究。
