Inheritance and expression of mitochondrial DNA point mutations.
Inheritance and expression of mitochondrial DNA point mutations.
复制标题
线粒体DNA点突变的遗传和表达。
DOI：
10.1016/0925-4439(95)00035-3
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发表时间：
1995
期刊：
影响因子：
--
通讯作者：
A. Oldfors
中科院分区：
文献类型：
--
作者：
E. Holme;M. Tulinius;N. Larsson;A. Oldfors
An important feature of the mitochondrial genom is the occurrence of heteroplasmy and the possibility for transmission to the offspring of various proportions of wild-type and mutated mtDNA. We have investigated the proportion of the tRNALys A8344G mutation, the tRNALeu(UUR) A3243G mutation, and the ATPase 6 T8993G mutation in patients with MERRF, MELAS, and Leigh's syndrome and their maternal relatives. The level of mutated mtDNA in the offspring of carriers of the tRNALys mutation is correlated to the level in lymphocytes in the mother and seems to be transmitted by an essentially random mechanism where only a few mtDNA copies are founders of the mitochondrial genom in the offspring and the probability that the mutation is not transmitted to the offspring is high when the mothers carriers predominantly wild-type mtDNA. However, we found age-related differences in the distribution of mutated mtDNA in carriers of the tRNALys and tRNALeu mutations, which have to be considered before levels of mutated mtDNA are used for prediction of prognosis and transmission of a disorder.
影响因子：
14.9
作者：
ASHLEY, MV;LAIPIS, PJ;HAUSWIRTH, WW
通讯作者：
HAUSWIRTH, WW