The m.3243A>G variant affects not only islet, hair, or retinal ganglion cells, but all cells.
作者信息
Finsterer Josef
机构信息
Neurology & Neurophysiology Center, Vienna, Austria.
出版信息
GMS Ophthalmol Cases. 2025 May 2;15:Doc03. doi: 10.3205/oc000251. eCollection 2025.
Abstract
摘要
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The m.3243A>G variant affects not only islet, hair, or retinal ganglion cells, but all cells.m.3243A>G变异不仅影响胰岛、毛发或视网膜神经节细胞，还影响所有细胞。
GMS Ophthalmol Cases. 2025 May 2;15:Doc03. doi: 10.3205/oc000251. eCollection 2025.
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T cell activation contributes to purifying selection against the MELAS-associated m.3243A>G pathogenic variant in blood.T 细胞的激活有助于对血液中与 MELAS 相关的 m.3243A>G 致病性变异体进行清除选择。
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Renal manifestations in adults with mitochondrial disease from the mtDNA m.3243A>G pathogenic variant.成人线粒体疾病中 mtDNA m.3243A>G 致病性变异导致的肾脏表现。
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One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.一种突变，三种表型：m.3243A>G 突变导致的 MELAS、MIDD 和肌病的新代谢见解。
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Sensitive quantification of m.3243A>G mutational proportion in non-retinal tissues and its relationship with visual symptoms.非眼部组织中 m.3243A>G 突变比例的灵敏定量及其与视觉症状的关系。
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[Mitochondrial DNA heteroplasmy of the m.3243A>G mutation in maternally inherited diabetes and deafness].母系遗传糖尿病和耳聋中m.3243A>G突变的线粒体DNA异质性
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Multimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243A>G mutation.携带 m.3243A>G 突变的母系遗传性糖尿病和耳聋（MIDD）患者的黄斑营养不良的多模态影像学分析。
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The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.英国医学研究理事会（MRC）线粒体疾病患者队列研究：m.3243A>G 突变相关的临床表型——对诊断和管理的影响。
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本文引用的文献
1
The clinical and genetic characteristics of maternally inherited diabetes and deafness (MIDD) with mitochondrial m.3243A > G mutation: A 10-year follow-up observation study and literature review.线粒体m.3243A > G突变的母系遗传糖尿病和耳聋（MIDD）的临床和遗传特征：一项10年随访观察研究及文献综述
Clin Case Rep. 2024 Feb 1;12(2):e8458. doi: 10.1002/ccr3.8458. eCollection 2024 Feb.
2
Multimodal analysis in symptomatic MIDD-associated retinopathy. A case report and literature review.症状性线粒体糖尿病相关视网膜病变的多模态分析。病例报告及文献综述。
GMS Ophthalmol Cases. 2023 Dec 12;13:Doc23. doi: 10.3205/oc000231. eCollection 2023.
3
The Tip of the Iceberg in Maternally Inherited Diabetes and Deafness.母系遗传的糖尿病和耳聋中的冰山一角
Oman Med J. 2018 Sep;33(5):437-440. doi: 10.5001/omj.2018.80.
4
Genetic Counselling for Maternally Inherited Mitochondrial Disorders.母系遗传线粒体疾病的遗传咨询
Mol Diagn Ther. 2017 Aug;21(4):419-429. doi: 10.1007/s40291-017-0279-7.
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