Tulinius M H, Houshmand M, Larsson N G, Holme E, Oldfors A, Holmberg E, Wahlström J
Department of Pediatrics, Göteborg University, East Hospital, Sweden.
Hum Genet. 1995 Sep;96(3):290-4. doi: 10.1007/BF00210409.
The mutation in the mitochondrial ATP synthase subunit 6 gene (ATP6 T8993G) was identified in a male infant who died at age 15 months of Leigh syndrome. He had 94% mutated mitochondrial DNA (mtDNA) in muscle and 92% in lymphocytes. His mother was healthy but had 37% mutated mtDNA in muscle and 38% in lymphocytes. The proband's brother, who was also healthy, had 44% mutated mtDNA in lymphocytes. No mutated mtDNA was detected in muscle and lymphocytes from the maternal grandmother of the proband or in lymphocytes from 15 other maternal relatives, showing that the first carrier of the ATP6 T8993G mutation in this family was the mother of the proband. This study shows that this point mutation may occur at substantial levels in a carrier of a de novo mutation and rapid segregation with high levels of mutated mtDNA causing neurodegenerative disease may occur in the second generation.
在一名15个月大死于Leigh综合征的男婴中，发现了线粒体ATP合酶亚基6基因（ATP6 T8993G）的突变。他的肌肉中线粒体DNA（mtDNA）突变率为94%，淋巴细胞中为92%。他的母亲健康，但肌肉中线粒体DNA突变率为37%，淋巴细胞中为38%。先证者的兄弟也健康，其淋巴细胞中线粒体DNA突变率为44%。在先证者的外祖母的肌肉和淋巴细胞中，以及在其他15名母系亲属的淋巴细胞中均未检测到突变的线粒体DNA，表明该家族中ATP6 T8993G突变的首位携带者是先证者的母亲。这项研究表明，这种点突变可能在新发突变的携带者中以相当高的水平出现，并且在第二代中可能会发生具有高水平突变线粒体DNA的快速分离，从而导致神经退行性疾病。
