期刊
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
卷 1787, 期 5, 页码 476-483出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.bbabio.2008.09.003
关键词
Mitochondrial DNA disease; Point mutation; Criteria for pathogenicity
Despite the strong purifying selection that occurs during embryonic development, the particular location and features of mitochondrial DNA make it especially susceptible to accumulating point mutations, giving rise to a large number of mitochondrial DNA variants. Many of these will have moderate or no phenotypic effects but others will be the cause of very dramatic diseases, usually known as mitochondriopathies. Because of the abundance of different mitochondrial DNA variants, it is not easy to determine whether a new mutation is pathogenic. To facilitate this task, different criteria have been proposed, but they are often either too severely or too loosely applied. Citing examples from the literature, in this paper we discuss some critical aspects of these criteria. (C) 2008 Elsevier B.V. All rights reserved.
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