Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk

被引：48

作者：

Spinazzola, A. ^{[1
]}

Zeviani, M. ^{[1
]}

机构：

[1] Fdn IRCCS, C Besta Neurol Inst, Unit Mol Neurogenet, I-20126 Milan, Italy

来源：

JOURNAL OF INTERNAL MEDICINE | 2009年 / 265卷 / 02期

关键词：

mitochondrial disorders; mitochondrial DNA; mtDNA depletion; mtDNA multiple deletions; oxidative phosphorylation; DNA-POLYMERASE-GAMMA; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; ADENINE-NUCLEOTIDE TRANSLOCATOR; ONSET SPINOCEREBELLAR ATAXIA; NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY; AUTOSOMAL-DOMINANT; MULTIPLE DELETIONS; SACCHAROMYCES-CEREVISIAE; POLG MUTATIONS; OXIDATIVE-PHOSPHORYLATION;

D O I：

10.1111/j.1365-2796.2008.02059.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Spinazzola A, Zeviani M ("C. Besta" Neurological Institute, Foundation IRCCS, Milano, Italy). Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk (Review). J Intern Med 2009; 265: 174-192. 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.

引用

页码：174 / 192

页数：19

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