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澳大利亚基因组学线粒体旗舰项目:提供线粒体诊断的国家计划

Rocio Rius¹, Alison G Compton², Naomi L Baker³

¹Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, NSW, Australia; The University of Melbourne, Melbourne, VIC, Australia.

Genetics in medicine : official journal of the American College of Medical Genetics

|September 21, 2024

概括

从血液中进行基因组测序成功诊断出超过一半疑似线粒体疾病 (MD) 的患者. 这种方法在儿童期开始的MD中特别有效,简化了诊断和减少了侵入性测试.

科学领域:

基因组学和生物信息学
罕见疾病罕见疾病
临床诊断临床诊断临床诊断

背景情况:

线粒体疾病 (MD) 存在诊断挑战,通常涉及漫长和侵入性手术.
许多怀疑患有MD的患者仍未被诊断出来,这凸显了改善诊断策略的必要性.
澳大利亚基因组学线粒体旗舰项目旨在提高MD的诊断产量.

研究的目的:

评估单个基因组测序在疑似线粒体疾病的个体中的诊断效用.
将外体+线粒体DNA (mtDNA) 测序与MD诊断的全基因组测序进行比较.
评估患者特征,如发病年龄和祖先,对诊断产量的影响.

主要方法:

140名儿童和成年人怀疑患有MD,根据修改后的尼米根标准 (MNC) 进行招募.
参与者被随机分配到外体+mtDNA测序或全基因组测序.
分析包括核基因和mtDNA基因的变异,以及拷贝基因.

主要成果:

实现了55%的诊断收益率,识别了核MD基因 (37),mtDNA基因 (18) 和拷贝基因 (22) 的变异.
核基因病因在77%的诊断中被发现,在儿科发病 (71%) 和成人发病 (31%) 病例中,发病率更高.
较高的MNC分数与儿童的诊断产量增加相关;在3例成人病例中,在肌肉组织中发现了mtDNA缺失,但在血液中没有发现.

结论:

从血液中单个基因组测序为疑似线粒体疾病提供了简化诊断途径.
这种方法对患有童年发病的MD和高MNC分数的个体尤其有益.
与传统方法相比,基因组测序显著提高了诊断率.

关键词:

诊断诊断诊断诊断诊断诊断的收益率诊断的收益率基因组学就是基因组学.线粒体疾病线粒体疾病蛋白质组学是指蛋白质组学.

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