异质性
生物
线粒体DNA
遗传学
肌阵挛性癫痫
突变
利氏病
粒线体疾病
人类线粒体遗传学
线粒体脑肌病
基因型
点突变
分子生物学
基因
癫痫
神经科学
作者
John M. Shoffner,Marie T. Lott,Angela Maria Serena Lezza,Peter Seibel,Scott W. Ballinger,Douglas C. Wallace
出处
期刊:Cell
[Elsevier]
日期:1990-06-01
卷期号:61 (6): 931-937
被引量:1406
标识
DOI:10.1016/0092-8674(90)90059-n
摘要
An A to G transition mutation at nucleotide pair 8344 in human mitochondrial DNA (mtDNA) has been identified as the cause of MERRF. The mutation alters the T psi C loop of the tRNA(Lys) gene and creates a CviJI restriction site, providing a simple molecular diagnostic test for the disease. This mutation was present in three independent MERRF pedigrees and absent in 75 controls, altered a conserved nucleotide, and was heteroplasmic. All MERRF patients and their less-affected maternal relatives had between 2% and 27% wild-type mtDNAs and showed an age-related association between genotype and phenotype. This suggests that a small percentage of normal mtDNAs has a large protective effect on phenotype. This mutation provides molecular confirmation that some forms of epilepsy are the result of deficiencies in mitochondrial energy production.
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