Spinazzola A, Zeviani M
Unit of Molecular Neurogenetics, C. Besta Neurological Institute, Foundation IRCCS, Milano, Italy.
J Intern Med. 2009 Feb;265(2):174-92. doi: 10.1111/j.1365-2796.2008.02059.x.
In the course of evolution, mitochondria lost their independence, and mitochondrial DNA (mtDNA) became the 'slave' of nuclear DNA, depending on numerous nucleus-encoded factors for its integrity, replication and expression. Mutations in any of these factors may alter the cross-talk between the two genomes and cause Mendelian disorders characterized by qualitative (multiple deletions) or quantitative (depletion) alterations of mtDNA, or by defective translation of mtDNA-encoded respiratory chain components.
在进化过程中，线粒体失去了独立性，线粒体DNA（mtDNA）成为核DNA的“奴隶”，其完整性、复制和表达依赖于众多由细胞核编码的因子。这些因子中任何一个发生突变，都可能改变两个基因组之间的相互作用，导致孟德尔疾病，其特征为mtDNA的定性（多处缺失）或定量（耗竭）改变，或mtDNA编码的呼吸链成分翻译缺陷。
