糖尿病与线粒体DNA中的病原点突变相关
W Reardon1, R J Ross, M G Sweeney
1Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, London, UK.
Lancet (London, England)
|December 5, 1992
概括
线粒体DNA (mtDNA) 缺陷可能导致糖尿病 (DM). 在糖尿病家庭成员中发现了一种特定的mtDNA突变,特别是那些从母亲遗传的,这表明mtDNA和DM之间存在联系.
科学领域:
- 遗传学 是一个遗传学.
- 代谢障碍 代谢障碍 代谢障碍
- 线粒体生物学 线粒体生物学
背景情况:
- 糖尿病 (DM) 在母系表现出更高的患病率.
- 线粒体DNA (mtDNA) 是由母亲继承的.
- 患有DM的罕见神经综合征与mtDNA缺陷有关.
研究的目的:
- 为了研究mtDNA缺陷在糖尿病中的潜在作用.
- 为了确定一个特定的mtDNA点突变在一个家庭与多系统障碍和DM.
- 探索与DM相关的确定mtDNA突变的母亲传播模式.
主要方法:
- 基于家庭的基因研究,涉及14名成员.
- 对葡萄糖不耐受性的查.
- 用DNA分析来检测tRNAleucine线粒体基因在3243位的已知点突变.
主要成果:
- 在所有三名糖尿病患者中都确定了特定的mtDNA点突变.
- 这种突变存在于试验对象的尸体组织中.
- 这种突变在女性患者的七个后代中被发现,但在男性试验者的孩子中没有发现.
结论:
- 在这个家族中,一种特定的mtDNA突变 (3243tRNA Leu) 与糖尿病有关.
- mtDNA突变的从母亲传播与DM的发生有关.
- 临床医生应考虑多系统性疾病的家庭中的mtDNA缺陷和DM从母亲传播.
相关概念视频
01:39Mutations
Overview
01:31Translation
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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01:35Mutations
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While point mutations are changes in a single nucleotide in...
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
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